A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660099



Internal ID9579518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237645456..237650506hg38UCSC Ensembl
Outerchr2:237645299..237650659hg38UCSC Ensembl
Innerchr2:238554099..238559149hg19UCSC Ensembl
Outerchr2:238553942..238559302hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg385361
hg195361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5505026, essv6516786, essv5715249, essv6445525, essv5579163, essv6444966, essv5800021, essv5943129
SamplesHG00367, HG00326, HG00336, HG00734, HG00339, NA20528, HG00377, HG00274
Known GenesLRRFIP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660099
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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