A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631996



Internal ID7018806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46876237..46889148hg38UCSC Ensembl
Innerchr13:46876237..46889148hg38UCSC Ensembl
Outerchr13:46875737..46889648hg38UCSC Ensembl
chr13:47450372..47463283hg19UCSC Ensembl
Innerchr13:47450372..47463283hg19UCSC Ensembl
Outerchr13:47449872..47463783hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3812912
hg1912912
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14713523, essv14713527, essv14713526, essv14713529, essv14713524, essv14713528, essv14713525
SamplesHG03836, HG03999, HG02786, HG02493, HG03491, HG03898, HG03733
Known GenesHTR2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631996
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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