A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2622774



Internal ID8686332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:135586580..135588665hg38UCSC Ensembl
Outerchr9:138478426..138480511hg19UCSC Ensembl
Outerchr9:137618247..137620332hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg382086
hg192086
hg182086
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5204469
SamplesNA18507
Known GenesLOC100130954
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)esv2622774
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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