A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2424013



Internal ID8140885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:2377175..2378871hg38UCSC Ensembl
Outerchr7:2416810..2418506hg19UCSC Ensembl
Outerchr7:2383336..2385032hg18UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg381697
hg191697
hg181697
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5265584
SamplesNA18507
Known GenesEIF3B
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)esv2424013
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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