A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667252



Internal ID9933357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:30509597..30510263hg38UCSC Ensembl
Outerchr2:30509560..30510313hg38UCSC Ensembl
Innerchr2:30732463..30733129hg19UCSC Ensembl
Outerchr2:30732426..30733179hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38754
hg19754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6392702
SamplesNA18870
Known GenesLCLAT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667252
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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