A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14303022



Internal ID4614989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126567728..126568359hg38UCSC Ensembl
Innerchr11:126567728..126568359hg38UCSC Ensembl
Outerchr11:126567493..126568636hg38UCSC Ensembl
chr11:126437623..126438254hg19UCSC Ensembl
Innerchr11:126437623..126438254hg19UCSC Ensembl
Outerchr11:126437388..126438531hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38632
hg19632
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628008
Supporting Variants
SamplesHG04152
Known GenesKIRREL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14303022
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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