A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2617804



Internal ID8681362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:128063358..128070192hg38UCSC Ensembl
Outerchr2:128820932..128827766hg19UCSC Ensembl
Outerchr2:128537402..128544236hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg386835
hg196835
hg186835
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5309507
SamplesNA18507
Known Genes
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2617804
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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