A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2430837



Internal ID8147709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:76283500..76285374hg38UCSC Ensembl
Outerchr17:74279581..74281455hg19UCSC Ensembl
Outerchr17:71791176..71793050hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381875
hg191875
hg181875
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5211067
SamplesNA18507
Known GenesQRICH2
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)esv2430837
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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