A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627733



Internal ID6667880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111293474..111297507hg38UCSC Ensembl
Innerchr11:111293474..111297507hg38UCSC Ensembl
Outerchr11:111293221..111297727hg38UCSC Ensembl
chr11:111164199..111168232hg19UCSC Ensembl
Innerchr11:111164199..111168232hg19UCSC Ensembl
Outerchr11:111163946..111168452hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg384034
hg194034
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv233e214
Supporting Variantsessv14286896, essv14286894, essv14286895
SamplesNA12275, HG00335, NA18977
Known GenesCOLCA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627733
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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