A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5345015



Internal ID8436750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:33125231..33126412hg38UCSC Ensembl
Outerchr6:33093008..33094189hg19UCSC Ensembl
Outerchr6:33200986..33202167hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg381182
hg191182
hg181182
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2650098
Supporting Variants
SamplesNA18507
Known GenesHLA-DPB2
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)essv5345015
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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