A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665213



Internal ID9931318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:57968370..57991985hg38UCSC Ensembl
Outerchr3:57968207..57992138hg38UCSC Ensembl
Innerchr3:57954097..57977712hg19UCSC Ensembl
Outerchr3:57953934..57977865hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3823932
hg1923932
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5728719, essv5627393, essv5478626, essv6058053, essv6398483, essv6063300, essv6113961, essv6459680
SamplesNA18960, NA18613, NA19070, HG00583, HG00619, NA19009, NA18543, NA18552
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665213
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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