A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2591572



Internal ID1622112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29794921..29796460hg38UCSC Ensembl
Outerchr6:29762698..29764237hg19UCSC Ensembl
Outerchr6:29870677..29872216hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg381540
hg191540
hg181540
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5185148
SamplesNA18507
Known GenesLOC554223
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)esv2591572
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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