A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2651869



Internal ID8715427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:111882028..111883755hg38UCSC Ensembl
Outerchr6:112203231..112204958hg19UCSC Ensembl
Outerchr6:112309924..112311651hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381728
hg191728
hg181728
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5273479
SamplesNA18507
Known Genes
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)esv2651869
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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