A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5182185



Internal ID8273920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:161474962..161478029hg38UCSC Ensembl
Outerchr2:162331473..162334540hg19UCSC Ensembl
Outerchr2:162039719..162042786hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg383068
hg193068
hg183068
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2482257
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)essv5182185
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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