A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634800



Internal ID6674914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67139023..67140132hg38UCSC Ensembl
Innerchr14:67139023..67140132hg38UCSC Ensembl
Outerchr14:67138748..67140421hg38UCSC Ensembl
chr14:67605740..67606849hg19UCSC Ensembl
Innerchr14:67605740..67606849hg19UCSC Ensembl
Outerchr14:67605465..67607138hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg381110
hg191110
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15046152, essv15046160, essv15046153, essv15046154, essv15046155, essv15046151, essv15046162, essv15046156, essv15046161, essv15046157, essv15046158, essv15046159
SamplesHG03064, HG03437, NA18488, HG03470, HG03451, NA19900, NA19206, NA18486, HG03547, HG02339, HG03385, HG02635
Known GenesGPHN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634800
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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