A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13996706



Internal ID3998522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:3607625..3732043hg38UCSC Ensembl
chr11:3628855..3753273hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38124419
hg19124419
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625147
Supporting Variants
SamplesNA19309
Known GenesART1, ART5, CHRNA10, NUP98, TRPC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13996706
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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