A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672079



Internal ID9938184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:55837618..55838933hg38UCSC Ensembl
Outerchr2:55837461..55839101hg38UCSC Ensembl
Innerchr2:56064753..56066068hg19UCSC Ensembl
Outerchr2:56064596..56066236hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381641
hg191641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6377087, essv6482584, essv5913993, essv5813152, essv6170497
SamplesHG00361, NA12155, HG01365, HG00268, HG00321
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672079
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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