A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14119002



Internal ID690562
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626193
Supporting Variants
SamplesHG00325
Known GenesC11orf49
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14119002
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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