A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634667



Internal ID7021470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:60157738..60158571hg38UCSC Ensembl
Innerchr14:60157738..60158571hg38UCSC Ensembl
Outerchr14:60157589..60158772hg38UCSC Ensembl
chr14:60624456..60625289hg19UCSC Ensembl
Innerchr14:60624456..60625289hg19UCSC Ensembl
Outerchr14:60624307..60625490hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38834
hg19834
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15033556, essv15033558, essv15033557, essv15033560, essv15033562, essv15033564, essv15033561, essv15033559, essv15033563
SamplesNA20882, NA20508, NA20900, NA20513, NA19917, HG01281, HG00132, NA12249, NA20520
Known GenesDHRS7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634667
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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