A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15036119



Internal ID6103150
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634684
Supporting Variants
SamplesNA19625
Known GenesPRKCH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15036119
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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