A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2565352



Internal ID8628910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:31510253..31512006hg38UCSC Ensembl
Outerchr15:31802456..31804209hg19UCSC Ensembl
Outerchr15:29589748..29591501hg18UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg381754
hg191754
hg181754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5309842
SamplesNA18507
Known GenesOTUD7A
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)esv2565352
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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