A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5196879



Internal ID8288614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:30260631..30262112hg38UCSC Ensembl
Outerchr17:28587649..28589130hg19UCSC Ensembl
Outerchr17:25611775..25613256hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381482
hg191482
hg181482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2478144
Supporting Variants
SamplesNA18507
Known GenesBLMH
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)essv5196879
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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