A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693836



Internal ID15076774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129320319..129322117hg38UCSC Ensembl
Innerchr3:129321117..129321319hg38UCSC Ensembl
Outerchr3:129319319..129323117hg38UCSC Ensembl
chr3:129039162..129040960hg19UCSC Ensembl
Innerchr3:129039960..129040162hg19UCSC Ensembl
Outerchr3:129038162..129041960hg19UCSC Ensembl
chr3:130521852..130523650hg18UCSC Ensembl
Innerchr3:130522852..130522650hg18UCSC Ensembl
Outerchr3:130520852..130524650hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3346540
Supporting Variants
SamplesNA19240
Known GenesH1FX-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693836
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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