A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634684



Internal ID7021487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61496861..61517329hg38UCSC Ensembl
Innerchr14:61496864..61517326hg38UCSC Ensembl
Outerchr14:61496858..61517332hg38UCSC Ensembl
chr14:61963579..61984047hg19UCSC Ensembl
Innerchr14:61963582..61984044hg19UCSC Ensembl
Outerchr14:61963576..61984050hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3820469
hg1920469
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15036118, essv15036112, essv15036119, essv15036120, essv15036116, essv15036115, essv15036114, essv15036117, essv15036113
SamplesHG02628, NA19204, NA19399, HG03300, HG03472, HG03382, NA19625, HG02679, NA19900
Known GenesPRKCH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634684
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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