A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2619523



Internal ID8336395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:110061241..110062674hg38UCSC Ensembl
Outerchr9:112823521..112824954hg19UCSC Ensembl
Outerchr9:111863342..111864775hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg381434
hg191434
hg181434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5186204
SamplesNA18507
Known GenesAKAP2, PALM2-AKAP2
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)esv2619523
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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