A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638915



Internal ID6679012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68830090..68832490hg38UCSC Ensembl
Innerchr16:68830113..68832467hg38UCSC Ensembl
Outerchr16:68830067..68832513hg38UCSC Ensembl
chr16:68863993..68866393hg19UCSC Ensembl
Innerchr16:68864016..68866370hg19UCSC Ensembl
Outerchr16:68863970..68866416hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg382401
hg192401
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15501779, essv15501780, essv15501775, essv15501776, essv15501781, essv15501784, essv15501782, essv15501774, essv15501777, essv15501778, essv15501783
SamplesNA18861, HG01885, NA19446, HG03460, HG03520, NA19189, HG03343, HG03160, HG02554, HG03124, NA19099
Known GenesCDH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638915
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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