A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865445



Internal ID12971124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14487694..14487702hg38UCSC Ensembl
Innerchr11:14487677..14487719hg38UCSC Ensembl
Outerchr11:14487669..14487727hg38UCSC Ensembl
chr11:14509240..14509248hg19UCSC Ensembl
Innerchr11:14509223..14509265hg19UCSC Ensembl
Outerchr11:14509215..14509273hg19UCSC Ensembl
chr11:14465816..14465824hg18UCSC Ensembl
Innerchr11:14465841..14465799hg18UCSC Ensembl
Outerchr11:14465791..14465849hg18UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3370082
Supporting Variants
SamplesNA12005
Known GenesCOPB1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865445
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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