A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666405



Internal ID9932510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70986944..70987528hg38UCSC Ensembl
Outerchr2:70986907..70987578hg38UCSC Ensembl
Innerchr2:71214074..71214658hg19UCSC Ensembl
Outerchr2:71214037..71214708hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38672
hg19672
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6512621
SamplesHG01489
Known GenesTEX261
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666405
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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