A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662670



Internal ID9928775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:37673809..37679215hg38UCSC Ensembl
Outerchr22:37673438..37679585hg38UCSC Ensembl
Innerchr22:38069816..38075222hg19UCSC Ensembl
Outerchr22:38069445..38075592hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg386148
hg196148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6196385, essv6276344, essv5713704, essv5433423, essv6136366, essv5488182, essv6453256, essv6231729, essv5436753, essv6086026, essv5613284, essv6573288, essv6049985, essv5518236, essv6301267, essv5775779, essv6153600, essv6353690, essv5461086, essv5692700, essv5851926, essv5429238, essv6009162, essv5813344, essv6526387, essv6236115, essv6436631
SamplesNA19443, NA19446, NA19457, NA19437, NA19462, NA19347, NA19455, NA19461, NA19453, NA19452, NA19469, NA19436, NA19440, NA19434, NA19435, NA19334, NA19470, NA19311, NA19467, NA19360, NA19438, NA19468, NA19430, NA19312, NA19463, NA19429, NA19431
Known GenesLGALS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662670
Frequency
Sample Size1151
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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