A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14219485



Internal ID1934916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:83205399..83220700hg38UCSC Ensembl
chr11:82916441..82931742hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3815302
hg1915302
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627012
Supporting Variants
SamplesHG01802
Known GenesANKRD42
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14219485
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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