A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639384



Internal ID6679478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83162164..83175332hg38UCSC Ensembl
Innerchr16:83162164..83175332hg38UCSC Ensembl
Outerchr16:83162045..83175407hg38UCSC Ensembl
chr16:83195769..83208937hg19UCSC Ensembl
Innerchr16:83195769..83208937hg19UCSC Ensembl
Outerchr16:83195650..83209012hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3813169
hg1913169
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15545324, essv15545325, essv15545314, essv15545318, essv15545311, essv15545310, essv15545317, essv15545315, essv15545313, essv15545319, essv15545321, essv15545322, essv15545312, essv15545323, essv15545316, essv15545320
SamplesHG01775, HG02165, HG01500, HG01608, NA19776, HG02654, HG01495, HG01707, HG01596, HG01111, HG02178, NA12778, NA19657, HG01112, NA20507, HG00137
Known GenesCDH13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639384
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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