A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14302922



Internal ID4304738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126235465..126239510hg38UCSC Ensembl
Innerchr11:126235515..126239460hg38UCSC Ensembl
Outerchr11:126235415..126239560hg38UCSC Ensembl
chr11:126105360..126109405hg19UCSC Ensembl
Innerchr11:126105410..126109355hg19UCSC Ensembl
Outerchr11:126105310..126109455hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg384046
hg194046
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628000
Supporting Variants
SamplesHG02976
Known GenesFAM118B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14302922
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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