A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2582446



Internal ID8646004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:48081831..48085418hg38UCSC Ensembl
Outerchr17:46159193..46162780hg19UCSC Ensembl
Outerchr17:43514192..43517779hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg383588
hg193588
hg183588
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5280834
SamplesNA18507
Known GenesCBX1
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)esv2582446
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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