A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13992141



Internal ID3993957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:749186..753177hg38UCSC Ensembl
Innerchr11:749336..753027hg38UCSC Ensembl
Outerchr11:749036..753327hg38UCSC Ensembl
chr11:749186..753177hg19UCSC Ensembl
Innerchr11:749336..753027hg19UCSC Ensembl
Outerchr11:749036..753327hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg383992
hg193992
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625079
Supporting Variants
SamplesNA18974
Known GenesTALDO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13992141
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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