A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5244388



Internal ID8336123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:68756534..68758169hg38UCSC Ensembl
Outerchr15:69048873..69050508hg19UCSC Ensembl
Outerchr15:66835927..66837562hg18UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg381636
hg191636
hg181636
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2548805
Supporting Variants
SamplesNA18507
Known Genes
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)essv5244388
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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