A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2513077



Internal ID8576635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:19801388..19808489hg38UCSC Ensembl
Outerchr15:20006641..20013742hg19UCSC Ensembl
Outerchr15:18266649..18273755hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg387102
hg197102
hg187107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5372365
SamplesNA18507
Known Genes
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)esv2513077
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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