A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2525505



Internal ID8242378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:29118530..29120341hg38UCSC Ensembl
Outerchr15:29410733..29412544hg19UCSC Ensembl
Outerchr15:27198025..27199836hg18UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg381812
hg191812
hg181812
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5317683
SamplesNA18507
Known GenesFAM189A1
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)esv2525505
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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