A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693812



Internal ID15038915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119226915..119228713hg38UCSC Ensembl
Innerchr3:119227713..119227915hg38UCSC Ensembl
Outerchr3:119225915..119229713hg38UCSC Ensembl
chr3:118945762..118947560hg19UCSC Ensembl
Innerchr3:118946560..118946762hg19UCSC Ensembl
Outerchr3:118944762..118948560hg19UCSC Ensembl
chr3:120428452..120430250hg18UCSC Ensembl
Innerchr3:120429452..120429250hg18UCSC Ensembl
Outerchr3:120427452..120431250hg18UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3386832
Supporting Variants
SamplesNA19239
Known GenesB4GALT4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693812
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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