A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626193



Internal ID7013027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46948477..46949183hg38UCSC Ensembl
Innerchr11:46948477..46949183hg38UCSC Ensembl
Outerchr11:46948156..46949539hg38UCSC Ensembl
chr11:46970028..46970734hg19UCSC Ensembl
Innerchr11:46970028..46970734hg19UCSC Ensembl
Outerchr11:46969707..46971090hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38707
hg19707
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14119001, essv14119002
SamplesHG00325, HG00313
Known GenesC11orf49
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626193
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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