A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674600



Internal ID9940705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:160307846..160310845hg38UCSC Ensembl
Outerchr2:160307809..160310895hg38UCSC Ensembl
Innerchr2:161164357..161167356hg19UCSC Ensembl
Outerchr2:161164320..161167406hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg383087
hg193087
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv743e199
Supporting Variantsessv6070159
SamplesNA19701
Known GenesRBMS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674600
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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