A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5235964



Internal ID7981013
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 StatusS
Merged Variantsesv2436160
Supporting Variants
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)essv5235964
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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