A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2547886



Internal ID8611444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:100912135..100913579hg38UCSC Ensembl
Outerchr15:101452340..101453784hg19UCSC Ensembl
Outerchr15:99269863..99271307hg18UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg381445
hg191445
hg181445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5390239
SamplesNA18507
Known GenesALDH1A3
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)esv2547886
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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