A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14045288



Internal ID4047104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:19124265..19149337hg38UCSC Ensembl
Innerchr11:19124765..19148837hg38UCSC Ensembl
Outerchr11:19123265..19150337hg38UCSC Ensembl
chr11:19145812..19170884hg19UCSC Ensembl
Innerchr11:19146312..19170384hg19UCSC Ensembl
Outerchr11:19144812..19171884hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3825073
hg1925073
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625530
Supporting Variants
SamplesNA18985
Known GenesZDHHC13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14045288
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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