A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2460472



Internal ID8524030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:80481627..80483397hg38UCSC Ensembl
Outerchr10:82241383..82243153hg19UCSC Ensembl
Outerchr10:82231363..82233133hg18UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg381771
hg191771
hg181771
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5200450
SamplesNA18507
Known GenesTSPAN14
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)esv2460472
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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