A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2599932



Internal ID8316804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:149191527..149192971hg38UCSC Ensembl
Outerchr5:148571090..148572534hg19UCSC Ensembl
Outerchr5:148551283..148552727hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381445
hg191445
hg181445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5207847
SamplesNA18507
Known GenesABLIM3
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)esv2599932
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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