A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630542



Internal ID6670678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99894559..99898001hg38UCSC Ensembl
Innerchr12:99894562..99897999hg38UCSC Ensembl
Outerchr12:99894557..99898004hg38UCSC Ensembl
chr12:100288337..100291779hg19UCSC Ensembl
Innerchr12:100288340..100291777hg19UCSC Ensembl
Outerchr12:100288335..100291782hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg383443
hg193443
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14587150, essv14587180, essv14587173, essv14587094, essv14587119, essv14587163, essv14587116, essv14587185, essv14587172, essv14587165, essv14587188, essv14587101, essv14587194, essv14587087, essv14587151, essv14587148, essv14587189, essv14587125, essv14587127, essv14587169, essv14587120, essv14587104, essv14587157, essv14587134, essv14587166, essv14587117, essv14587109, essv14587137, essv14587187, essv14587192, essv14587089, essv14587130, essv14587175, essv14587145, essv14587167, essv14587144, essv14587088, essv14587176, essv14587146, essv14587110, essv14587112, essv14587186, essv14587118, essv14587096, essv14587138, essv14587155, essv14587171, essv14587095, essv14587099, essv14587128, essv14587105, essv14587107, essv14587086, essv14587122, essv14587111, essv14587123, essv14587131, essv14587147, essv14587195, essv14587129, essv14587156, essv14587182, essv14587193, essv14587143, essv14587158, essv14587184, essv14587191, essv14587091, essv14587149, essv14587142, essv14587100, essv14587092, essv14587102, essv14587139, essv14587168, essv14587093, essv14587161, essv14587183, essv14587108, essv14587164, essv14587113, essv14587106, essv14587103, essv14587115, essv14587159, essv14587141, essv14587098, essv14587132, essv14587181, essv14587162, essv14587152, essv14587177, essv14587097, essv14587178, essv14587140, essv14587154, essv14587190, essv14587136, essv14587179, essv14587174, essv14587121, essv14587153, essv14587090, essv14587124, essv14587126, essv14587135, essv14587114, essv14587160, essv14587170, essv14587133
SamplesHG02724, HG03697, NA12249, HG00257, HG00304, HG01530, NA07037, HG03985, HG01075, NA19819, HG00129, HG01055, NA20752, HG01089, HG00171, HG00731, HG03874, NA20796, NA20508, HG02223, HG01098, NA12340, NA20294, HG03896, HG04186, NA20889, NA19461, HG01204, HG02790, NA12776, HG01571, HG00177, NA19355, NA20798, NA19761, HG00290, HG00266, HG00115, NA19428, HG04210, HG01510, HG01312, HG01414, NA19917, HG00130, HG01402, NA07357, NA20504, HG01122, HG01709, HG03774, HG04153, NA12873, NA20783, HG01495, HG01785, HG01620, HG00141, HG00178, HG02220, HG01136, NA11894, NA20520, NA19658, HG00637, HG00276, HG00237, NA19676, HG00360, NA21128, HG00640, HG00382, NA06985, NA12348, HG01766, NA20795, HG01271, NA20753, NA20540, HG01073, HG01670, NA12872, NA20818, HG00116, HG01260, HG03645, NA12283, HG03022, NA19711, HG03692, HG04134, HG01921, HG00120, NA20581, HG01393, HG01405, NA12812, NA20867, NA12889, HG00118, HG00378, NA12878, NA19749, NA20543, HG02682, HG02286, NA20804, HG02784, HG00336, HG00128
Known GenesANKS1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630542
Frequency
Sample Size2504
Observed Gain0
Observed Loss110
Observed Complex0
Frequencyn/a


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