A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623214



Internal ID7010071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50742967..50752994hg38UCSC Ensembl
Innerchr10:50742967..50752994hg38UCSC Ensembl
Outerchr10:50742467..50753494hg38UCSC Ensembl
chr10:52502727..52512754hg19UCSC Ensembl
Innerchr10:52502727..52512754hg19UCSC Ensembl
Outerchr10:52502227..52513254hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3810028
hg1910028
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13803143, essv13803137, essv13803097, essv13803098, essv13803113, essv13803094, essv13803112, essv13803121, essv13803091, essv13803146, essv13803134, essv13803149, essv13803140, essv13803104, essv13803125, essv13803124, essv13803132, essv13803106, essv13803107, essv13803102, essv13803118, essv13803133, essv13803101, essv13803093, essv13803141, essv13803148, essv13803120, essv13803115, essv13803114, essv13803117, essv13803103, essv13803123, essv13803131, essv13803135, essv13803095, essv13803136, essv13803128, essv13803147, essv13803099, essv13803139, essv13803116, essv13803105, essv13803100, essv13803108, essv13803138, essv13803126, essv13803096, essv13803144, essv13803127, essv13803119, essv13803142, essv13803109, essv13803129, essv13803092, essv13803145, essv13803130, essv13803111, essv13803122, essv13803110, essv13803150
SamplesNA18502, HG02890, HG03175, HG03517, HG01389, HG01066, HG02836, NA19092, HG03126, HG02536, HG03069, NA19107, NA19171, HG03099, HG03091, NA19130, NA19922, HG02562, HG03189, NA19024, HG02885, NA19235, NA19317, NA19209, HG01183, HG02820, NA19210, HG03054, HG01162, NA19184, NA19327, HG01882, NA19913, HG01979, NA20126, NA18871, HG02976, HG01889, HG03472, HG01890, HG02332, HG02594, HG01988, HG02568, HG02722, NA19035, NA19712, HG01685, NA19835, HG03108, HG02558, HG02974, HG03157, NA19474, HG03077, HG03538, HG02855, NA19146, HG02643, HG02006
Known GenesASAH2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623214
Frequency
Sample Size2504
Observed Gain0
Observed Loss60
Observed Complex0
Frequencyn/a


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