A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630031



Internal ID7016851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76506913..76508035hg38UCSC Ensembl
Innerchr12:76506914..76508035hg38UCSC Ensembl
Outerchr12:76506913..76508036hg38UCSC Ensembl
chr12:76900693..76901815hg19UCSC Ensembl
Innerchr12:76900694..76901815hg19UCSC Ensembl
Outerchr12:76900693..76901816hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg381123
hg191123
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14540125, essv14540113, essv14540141, essv14540145, essv14540132, essv14540146, essv14540162, essv14540137, essv14540130, essv14540120, essv14540139, essv14540135, essv14540127, essv14540128, essv14540159, essv14540129, essv14540136, essv14540121, essv14540155, essv14540124, essv14540131, essv14540140, essv14540149, essv14540147, essv14540122, essv14540160, essv14540112, essv14540148, essv14540114, essv14540143, essv14540126, essv14540116, essv14540151, essv14540123, essv14540144, essv14540138, essv14540134, essv14540133, essv14540115, essv14540142, essv14540154, essv14540157, essv14540153, essv14540158, essv14540161, essv14540117, essv14540150, essv14540118, essv14540156, essv14540152, essv14540119
SamplesHG02614, NA19700, HG02583, NA18861, NA18917, NA19092, HG02870, NA20298, NA19314, HG02895, NA18519, HG02811, HG03499, HG03485, HG02756, HG02054, HG01063, HG03268, NA19917, NA19026, NA18520, HG02427, NA18864, HG03114, HG03132, HG03511, NA19327, HG02108, HG02322, NA19982, HG03159, HG03081, HG03027, HG03136, HG02445, NA20296, NA19321, NA19256, HG02010, HG01915, NA18865, HG03259, NA19324, HG03419, NA20357, NA19143, NA19248, HG03097, HG02052, HG02051, HG02861
Known GenesOSBPL8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630031
Frequency
Sample Size2504
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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