A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661930



Internal ID9928035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:185042068..185047437hg38UCSC Ensembl
Outerchr3:185041911..185047603hg38UCSC Ensembl
Innerchr3:184759856..184765225hg19UCSC Ensembl
Outerchr3:184759699..184765391hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg385693
hg195693
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6317589, essv6159621
SamplesNA18602, NA18560
Known GenesVPS8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661930
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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