A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647685



Internal ID7034425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36455613..36456910hg38UCSC Ensembl
Innerchr22:36455613..36456910hg38UCSC Ensembl
Outerchr22:36455312..36457140hg38UCSC Ensembl
chr22:36851660..36852957hg19UCSC Ensembl
Innerchr22:36851660..36852957hg19UCSC Ensembl
Outerchr22:36851359..36853187hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381298
hg191298
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16414569, essv16414567, essv16414562, essv16414557, essv16414549, essv16414555, essv16414565, essv16414556, essv16414554, essv16414561, essv16414570, essv16414564, essv16414548, essv16414568, essv16414560, essv16414558, essv16414551, essv16414553, essv16414559, essv16414550, essv16414563, essv16414571, essv16414566, essv16414552
SamplesHG01965, NA19466, NA19332, NA19350, HG03100, NA19198, HG01242, NA18874, NA19172, NA19445, HG02009, HG01095, HG02307, HG03124, HG03202, NA19318, HG02586, NA18858, HG03064, NA19019, NA19144, HG02317, HG03313, NA19030
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647685
Frequency
Sample Size2504
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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