A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617349



Internal ID7004235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:59173040..59175196hg38UCSC Ensembl
Innerchr8:59173054..59175183hg38UCSC Ensembl
Outerchr8:59173027..59175210hg38UCSC Ensembl
chr8:60085599..60087755hg19UCSC Ensembl
Innerchr8:60085613..60087742hg19UCSC Ensembl
Outerchr8:60085586..60087769hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg382157
hg192157
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13208272, essv13208268, essv13208263, essv13208275, essv13208260, essv13208274, essv13208277, essv13208276, essv13208278, essv13208267, essv13208264, essv13208269, essv13208262, essv13208266, essv13208271, essv13208261, essv13208265, essv13208270, essv13208273, essv13208259
SamplesHG02337, HG03241, NA19377, HG03139, HG03577, NA19374, HG03040, HG02111, HG03268, HG02461, HG03195, HG04029, HG01248, HG01988, HG02557, HG02010, HG03108, NA19376, NA19248, HG02808
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617349
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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