A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5313862



Internal ID8405597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:149177190..149178762hg38UCSC Ensembl
Outerchr6:149498326..149499898hg19UCSC Ensembl
Outerchr6:149540019..149541591hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg381573
hg191573
hg181573
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2466757
Supporting Variants
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)essv5313862
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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