A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15046049



Internal ID5047865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:66703331..66705149hg38UCSC Ensembl
Innerchr14:66703379..66705101hg38UCSC Ensembl
Outerchr14:66703283..66705197hg38UCSC Ensembl
chr14:67170049..67171867hg19UCSC Ensembl
Innerchr14:67170097..67171819hg19UCSC Ensembl
Outerchr14:67170001..67171915hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg381819
hg191819
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634790
Supporting Variants
SamplesHG03716
Known GenesGPHN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15046049
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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