A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5185273



Internal ID8277008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:101212186..101216399hg38UCSC Ensembl
Outerchr15:101752391..101756604hg19UCSC Ensembl
Outerchr15:99569914..99574127hg18UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg384214
hg194214
hg184214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2488930
Supporting Variants
SamplesNA18507
Known GenesCHSY1
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)essv5185273
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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