A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617357



Internal ID7004242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:59537005..59542787hg38UCSC Ensembl
Innerchr8:59537005..59542787hg38UCSC Ensembl
Outerchr8:59536505..59543287hg38UCSC Ensembl
chr8:60449564..60455346hg19UCSC Ensembl
Innerchr8:60449564..60455346hg19UCSC Ensembl
Outerchr8:60449064..60455846hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg385783
hg195783
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13208845, essv13208833, essv13208831, essv13208847, essv13208837, essv13208830, essv13208843, essv13208827, essv13208838, essv13208835, essv13208824, essv13208842, essv13208839, essv13208840, essv13208841, essv13208834, essv13208825, essv13208836, essv13208823, essv13208832, essv13208826, essv13208844, essv13208846, essv13208828, essv13208822, essv13208829
SamplesNA19141, NA18917, NA20346, NA19315, NA19317, HG01176, NA19159, NA19239, HG03583, NA19200, HG03511, NA19236, HG03159, HG03294, NA19449, NA18856, HG03064, NA19331, NA19334, NA19310, HG03162, HG01111, HG02851, NA19463, NA18522, NA19429
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617357
Frequency
Sample Size2504
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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