A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2599223



Internal ID8662781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:125265319..125265838hg38UCSC Ensembl
Outerchr9:128027598..128028117hg19UCSC Ensembl
Outerchr9:127067419..127067938hg18UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38657
hg19657
hg18657
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5367738
SamplesNA18507
Known GenesGAPVD1
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)esv2599223
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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