A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14176253



Internal ID1346684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60805093..60806956hg38UCSC Ensembl
Innerchr11:60805093..60806956hg38UCSC Ensembl
Outerchr11:60804847..60807177hg38UCSC Ensembl
chr11:60572566..60574429hg19UCSC Ensembl
Innerchr11:60572566..60574429hg19UCSC Ensembl
Outerchr11:60572320..60574650hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg381864
hg191864
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626568
Supporting Variants
SamplesHG01187
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14176253
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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