A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14031931



Internal ID4033747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:12409149..13018985hg38UCSC Ensembl
Innerchr11:12409299..13018835hg38UCSC Ensembl
Outerchr11:12408999..13019135hg38UCSC Ensembl
chr11:12430696..13040532hg19UCSC Ensembl
Innerchr11:12430846..13040382hg19UCSC Ensembl
Outerchr11:12430546..13040682hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38609837
hg19609837
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625395
Supporting Variants
SamplesHG03709
Known GenesLINC00958, PARVA, RASSF10, TEAD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14031931
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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