A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2534689



Internal ID8251562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:73467695..73469328hg38UCSC Ensembl
Outerchr10:75227453..75229086hg19UCSC Ensembl
Outerchr10:74897459..74899092hg18UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg381634
hg191634
hg181634
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5187707
SamplesNA18507
Known GenesPPP3CB
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)esv2534689
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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