A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865495



Internal ID13317864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76081940..76081956hg38UCSC Ensembl
Innerchr11:76081912..76081984hg38UCSC Ensembl
Outerchr11:76081896..76082000hg38UCSC Ensembl
chr11:75792984..75793000hg19UCSC Ensembl
Innerchr11:75792956..75793028hg19UCSC Ensembl
Outerchr11:75792940..75793044hg19UCSC Ensembl
chr11:75470632..75470648hg18UCSC Ensembl
Innerchr11:75470676..75470604hg18UCSC Ensembl
Outerchr11:75470588..75470692hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3424930
Supporting Variants
SamplesNA12005
Known GenesUVRAG
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865495
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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