A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678784



Internal ID9944889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:61205593..61208580hg38UCSC Ensembl
Outerchr1:61205556..61208630hg38UCSC Ensembl
Innerchr1:61671265..61674252hg19UCSC Ensembl
Outerchr1:61671228..61674302hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg383075
hg193075
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5643316
SamplesNA19189
Known GenesNFIA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678784
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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