A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631672



Internal ID7018480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30388110..30390702hg38UCSC Ensembl
Innerchr13:30388151..30390662hg38UCSC Ensembl
Outerchr13:30388070..30390743hg38UCSC Ensembl
chr13:30962247..30964839hg19UCSC Ensembl
Innerchr13:30962288..30964799hg19UCSC Ensembl
Outerchr13:30962207..30964880hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg382593
hg192593
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14680815, essv14680809, essv14680804, essv14680808, essv14680806, essv14680811, essv14680805, essv14680810, essv14680807, essv14680812, essv14680814, essv14680813
SamplesNA21110, HG04229, HG03668, HG03902, HG03697, HG02793, HG03805, HG04180, HG03730, HG03660, HG02494, HG02699
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631672
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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