A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2478123



Internal ID1508663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:40702588..40704020hg38UCSC Ensembl
Outerchr15:40994786..40996218hg19UCSC Ensembl
Outerchr15:38782078..38783510hg18UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg381433
hg191433
hg181433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5298763
SamplesNA18507
Known GenesRAD51
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)esv2478123
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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