A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661731



Internal ID9927836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:17287907..17289663hg38UCSC Ensembl
Outerchr19:17287536..17290033hg38UCSC Ensembl
Innerchr19:17398716..17400472hg19UCSC Ensembl
Outerchr19:17398345..17400842hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg382498
hg192498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5671088, essv5803683, essv6113464, essv6103695, essv5441517, essv5789789, essv5592530, essv6431902, essv6205731, essv6349514, essv6141345, essv5892491, essv5468249, essv6261277, essv5430496, essv6531927, essv5474295, essv6144821, essv5853623, essv5971947, essv5712144, essv6430762
SamplesNA19394, NA19393, NA19443, NA19446, NA19448, NA19451, NA19403, NA19462, NA19347, NA19453, NA19452, NA19469, NA19395, NA19375, NA19440, NA19334, NA19467, NA19438, NA19430, NA19312, NA19463, NA19431
Known GenesANKLE1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661731
Frequency
Sample Size1151
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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