A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2436160



Internal ID8153033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:52760186..52844793hg38UCSC Ensembl
Outerchr6:52624984..52709591hg19UCSC Ensembl
Outerchr6:52732943..52817550hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3884608
hg1984608
hg1884608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5235964
SamplesNA18507
Known GenesGSTA1, GSTA2, GSTA5
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)esv2436160
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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