A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2586005



Internal ID8649563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:127796728..127797516hg38UCSC Ensembl
Outerchr10:129594992..129595780hg19UCSC Ensembl
Outerchr10:129484982..129485770hg18UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38541
hg19541
hg18541
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5297488
SamplesNA18507
Known Genes
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)esv2586005
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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