A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5383408



Internal ID8128457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:25685951..25687657hg38UCSC Ensembl
Outerchr15:25931098..25932804hg19UCSC Ensembl
Outerchr15:23482191..23483897hg18UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg381707
hg191707
hg181707
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2440000
Supporting Variants
SamplesNA18507
Known GenesATP10A
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)essv5383408
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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