A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628294



Internal ID6668437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1815239..1815717hg38UCSC Ensembl
Innerchr12:1815247..1815710hg38UCSC Ensembl
Outerchr12:1815232..1815725hg38UCSC Ensembl
chr12:1924405..1924883hg19UCSC Ensembl
Innerchr12:1924413..1924876hg19UCSC Ensembl
Outerchr12:1924398..1924891hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14336178, essv14336180, essv14336078, essv14336143, essv14336150, essv14336049, essv14336129, essv14336090, essv14336073, essv14336054, essv14336122, essv14336103, essv14336148, essv14336123, essv14336064, essv14336179, essv14336149, essv14336095, essv14336102, essv14336047, essv14336050, essv14336101, essv14336185, essv14336124, essv14336058, essv14336108, essv14336171, essv14336168, essv14336075, essv14336154, essv14336130, essv14336113, essv14336159, essv14336115, essv14336163, essv14336131, essv14336132, essv14336128, essv14336140, essv14336067, essv14336142, essv14336059, essv14336165, essv14336158, essv14336176, essv14336147, essv14336127, essv14336136, essv14336121, essv14336169, essv14336181, essv14336164, essv14336177, essv14336125, essv14336083, essv14336098, essv14336144, essv14336153, essv14336056, essv14336110, essv14336135, essv14336146, essv14336107, essv14336183, essv14336094, essv14336156, essv14336099, essv14336084, essv14336076, essv14336109, essv14336077, essv14336151, essv14336173, essv14336157, essv14336065, essv14336055, essv14336057, essv14336104, essv14336060, essv14336120, essv14336062, essv14336111, essv14336118, essv14336074, essv14336167, essv14336172, essv14336051, essv14336079, essv14336133, essv14336106, essv14336089, essv14336080, essv14336182, essv14336066, essv14336119, essv14336134, essv14336053, essv14336048, essv14336162, essv14336069, essv14336137, essv14336170, essv14336092, essv14336175, essv14336093, essv14336112, essv14336186, essv14336070, essv14336184, essv14336139, essv14336141, essv14336126, essv14336114, essv14336161, essv14336088, essv14336152, essv14336087, essv14336174, essv14336097, essv14336138, essv14336100, essv14336068, essv14336091, essv14336117, essv14336155, essv14336105, essv14336063, essv14336086, essv14336096, essv14336071, essv14336116, essv14336145, essv14336160, essv14336081, essv14336061, essv14336052, essv14336085, essv14336166, essv14336072, essv14336082
SamplesHG02715, HG03136, HG02666, HG03370, NA20281, HG02890, NA19625, HG03120, NA19436, HG03567, NA19026, HG03064, HG03382, HG01284, HG03521, HG01896, HG03280, HG01064, HG03437, HG02284, NA19093, HG00736, HG02759, HG02318, HG03247, NA19435, HG01389, HG03313, NA20296, HG02943, NA18877, HG02014, HG01956, NA18517, HG02722, HG02884, HG01883, HG02010, HG02508, NA19184, HG02471, HG02322, HG03401, NA19378, HG03548, HG03538, NA19355, HG03378, HG02583, HG02308, NA19117, HG02836, NA19428, HG03127, NA19239, HG03451, HG02462, HG03054, NA19917, HG02568, NA19107, HG03559, HG02557, HG03241, HG03844, NA18876, NA19440, HG03445, HG03464, HG02851, HG01879, NA20282, HG01161, HG03565, HG03114, NA19190, NA19213, HG01948, HG02442, HG03190, NA19172, HG03040, NA19375, HG01989, HG01271, HG02461, HG02922, HG02337, HG02439, HG01073, HG02429, HG02343, HG01889, HG03096, HG03428, HG03433, NA19707, HG03291, NA18910, HG03577, NA19307, NA19711, HG02624, HG03108, NA19235, HG01393, HG02819, NA18909, HG03499, NA19201, HG02645, NA19116, HG03367, HG03172, NA20274, NA20298, HG02628, NA20287, HG02481, HG02561, HG03123, HG02589, NA19225, HG01323, HG01164, HG01912, HG03077, NA19916, HG01108, HG01951, NA19095, HG02642, HG03388, NA19204, HG02555, HG03515, HG02013, NA19454, HG02769, HG03095
Known GenesCACNA2D4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628294
Frequency
Sample Size2504
Observed Gain0
Observed Loss140
Observed Complex0
Frequencyn/a


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