A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14197544



Internal ID5604390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67444873..67448725hg38UCSC Ensembl
Innerchr11:67444877..67448721hg38UCSC Ensembl
Outerchr11:67444869..67448729hg38UCSC Ensembl
chr11:67212344..67216196hg19UCSC Ensembl
Innerchr11:67212348..67216192hg19UCSC Ensembl
Outerchr11:67212340..67216200hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg383853
hg193853
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626711
Supporting Variants
SamplesNA19036
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14197544
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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