A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14045314



Internal ID3769425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:19159512..19161744hg38UCSC Ensembl
Innerchr11:19159513..19161744hg38UCSC Ensembl
Outerchr11:19159512..19161745hg38UCSC Ensembl
chr11:19181059..19183291hg19UCSC Ensembl
Innerchr11:19181060..19183291hg19UCSC Ensembl
Outerchr11:19181059..19183292hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg382233
hg192233
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625531
Supporting Variants
SamplesHG03401
Known GenesZDHHC13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14045314
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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