A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638882



Internal ID7025667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67263072..67263487hg38UCSC Ensembl
Innerchr16:67263073..67263487hg38UCSC Ensembl
Outerchr16:67263072..67263488hg38UCSC Ensembl
chr16:67296975..67297390hg19UCSC Ensembl
Innerchr16:67296976..67297390hg19UCSC Ensembl
Outerchr16:67296975..67297391hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38416
hg19416
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15501417, essv15501406, essv15501414, essv15501408, essv15501419, essv15501425, essv15501412, essv15501409, essv15501407, essv15501405, essv15501418, essv15501415, essv15501422, essv15501420, essv15501421, essv15501410, essv15501424, essv15501413, essv15501403, essv15501411, essv15501404, essv15501423, essv15501416
SamplesHG01359, HG01860, NA12400, NA12813, HG01372, HG00323, HG00154, NA20895, HG00157, HG00126, NA20773, NA12716, NA20276, HG01131, HG01685, HG00734, HG00319, HG01085, HG04209, HG01089, HG01631, HG01191, HG01516
Known GenesSLC9A5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638882
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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