A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637968



Internal ID6678067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12696564..12698421hg38UCSC Ensembl
Innerchr16:12696606..12698379hg38UCSC Ensembl
Outerchr16:12696522..12698463hg38UCSC Ensembl
chr16:12790421..12792278hg19UCSC Ensembl
Innerchr16:12790463..12792236hg19UCSC Ensembl
Outerchr16:12790379..12792320hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg381858
hg191858
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15377499, essv15377500, essv15377498, essv15377501, essv15377496, essv15377497, essv15377495, essv15377494
SamplesHG03703, HG02600, NA20908, HG03884, NA21116, HG02603, HG03619, NA20846
Known GenesCPPED1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637968
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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