A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2503823



Internal ID1534363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31265262..31351585hg38UCSC Ensembl
Outerchr6:31233039..31319362hg19UCSC Ensembl
Outerchr6:31341018..31427341hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3886324
hg1986324
hg1886324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5366632
SamplesNA18507
Known GenesHLA-C
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)esv2503823
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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