A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5279532



Internal ID8371267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:64340395..64341925hg38UCSC Ensembl
Outerchr15:64632594..64634124hg19UCSC Ensembl
Outerchr15:62419647..62421177hg18UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg381531
hg191531
hg181531
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2610243
Supporting Variants
SamplesNA18507
Known GenesCSNK1G1
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)essv5279532
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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