A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2570309



Internal ID8633867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:10574318..10575762hg38UCSC Ensembl
Outerchr5:10574430..10575874hg19UCSC Ensembl
Outerchr5:10627430..10628874hg18UCSC Ensembl
Cytoband5p15.2
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 Variantsessv5297721
SamplesNA18507
Known GenesANKRD33B
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)esv2570309
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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