A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674024



Internal ID9940129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:5407256..5413774hg38UCSC Ensembl
Outerchr2:5407219..5413824hg38UCSC Ensembl
Innerchr2:5547389..5553907hg19UCSC Ensembl
Outerchr2:5547352..5553957hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg386606
hg196606
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6058200
SamplesNA18613
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674024
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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