A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638870



Internal ID6678967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66487240..66488758hg38UCSC Ensembl
Innerchr16:66487242..66488757hg38UCSC Ensembl
Outerchr16:66487239..66488760hg38UCSC Ensembl
chr16:66521143..66522661hg19UCSC Ensembl
Innerchr16:66521145..66522660hg19UCSC Ensembl
Outerchr16:66521142..66522663hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg381519
hg191519
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15501227, essv15501230, essv15501229, essv15501235, essv15501228, essv15501234, essv15501231, essv15501237, essv15501236, essv15501233, essv15501232
SamplesNA18757, HG03469, NA18573, NA19037, HG03442, NA18640, HG02040, HG02573, HG02561, NA19452, HG02839
Known GenesBEAN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638870
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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