A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2624268



Internal ID8687826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:176960271..176964133hg38UCSC Ensembl
Outerchr5:176387272..176391134hg19UCSC Ensembl
Outerchr5:176319878..176323740hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg383863
hg193863
hg183863
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5166547
SamplesNA18507
Known GenesUIMC1
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)esv2624268
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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