A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671529



Internal ID9937634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:95065072..95071210hg38UCSC Ensembl
Outerchr2:95064915..95071370hg38UCSC Ensembl
Innerchr2:95730817..95736955hg19UCSC Ensembl
Outerchr2:95730660..95737115hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg386456
hg196456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5682070, essv5877110, essv5628721, essv5997164, essv5733546, essv5868656, essv5613823, essv6241817, essv5859712, essv5812062
SamplesHG00537, HG00651, NA19000, HG00684, NA18535, NA18610, NA18987, HG00595, HG00628, NA18549
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671529
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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