A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5343682



Internal ID8088731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:69090775..69092432hg38UCSC Ensembl
Outerchr17:67086916..67088573hg19UCSC Ensembl
Outerchr17:64598511..64600168hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg381658
hg191658
hg181658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2556464
Supporting Variants
SamplesNA18507
Known GenesABCA6
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)essv5343682
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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