A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2602099



Internal ID8318971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:42627505..42631426hg38UCSC Ensembl
Outerchr5:42627607..42631528hg19UCSC Ensembl
Outerchr5:42663364..42667285hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg383922
hg193922
hg183922
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5229652
SamplesNA18507
Known GenesGHR
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)esv2602099
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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