A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2478804



Internal ID8195676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:60368482..60369943hg38UCSC Ensembl
Outerchr17:58445843..58447304hg19UCSC Ensembl
Outerchr17:55800625..55802086hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg381462
hg191462
hg181462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5259316
SamplesNA18507
Known GenesUSP32
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)esv2478804
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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