A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638784



Internal ID7025569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:61702506..61703347hg38UCSC Ensembl
Innerchr16:61702512..61703342hg38UCSC Ensembl
Outerchr16:61702501..61703353hg38UCSC Ensembl
chr16:61736410..61737251hg19UCSC Ensembl
Innerchr16:61736416..61737246hg19UCSC Ensembl
Outerchr16:61736405..61737257hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38842
hg19842
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15496295, essv15496298, essv15496296, essv15496297
SamplesNA19027, HG00551, NA19042, NA19435
Known GenesCDH8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638784
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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