A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2548678



Internal ID8612237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:87201027..87202260hg38UCSC Ensembl
Outerchr15:87744258..87745491hg19UCSC Ensembl
Outerchr15:85545262..85546495hg18UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg381234
hg191234
hg181234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5257486
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)esv2548678
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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