A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2653478



Internal ID8717036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:24871455..24874547hg38UCSC Ensembl
Outerchr15:25116602..25119694hg19UCSC Ensembl
Outerchr15:22667695..22670787hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg383093
hg193093
hg183093
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5267334
SamplesNA18507
Known GenesSNRPN
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)esv2653478
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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