A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14118999



Internal ID4120815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46651662..46681651hg38UCSC Ensembl
chr11:46673212..46703201hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3829990
hg1929990
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626191
Supporting Variants
SamplesNA20866
Known GenesARHGAP1, ATG13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14118999
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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