A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15046163



Internal ID5047979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67242836..67251655hg38UCSC Ensembl
Innerchr14:67242836..67251655hg38UCSC Ensembl
Outerchr14:67242691..67251739hg38UCSC Ensembl
chr14:67709553..67718372hg19UCSC Ensembl
Innerchr14:67709553..67718372hg19UCSC Ensembl
Outerchr14:67709408..67718456hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg388820
hg198820
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634801
Supporting Variants
SamplesNA18613
Known GenesMPP5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15046163
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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