A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14685713



Internal ID6966336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:32556403..32563987hg38UCSC Ensembl
Innerchr13:32556903..32563487hg38UCSC Ensembl
Outerchr13:32555403..32564987hg38UCSC Ensembl
chr13:33130540..33138124hg19UCSC Ensembl
Innerchr13:33131040..33137624hg19UCSC Ensembl
Outerchr13:33129540..33139124hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg387585
hg197585
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631721
Supporting Variants
SamplesNA21142
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14685713
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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