A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2555630



Internal ID8619189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:71902372..71903727hg38UCSC Ensembl
Outerchr9:74517288..74518643hg19UCSC Ensembl
Outerchr9:73707108..73708463hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg381356
hg191356
hg181356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5339560
SamplesNA18507
Known GenesABHD17B
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)esv2555630
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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