A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2497278



Internal ID8560836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:127362452..127363567hg38UCSC Ensembl
Outerchr10:129160716..129161831hg19UCSC Ensembl
Outerchr10:129050706..129051821hg18UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38224
hg19224
hg18224
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5287503
SamplesNA18507
Known GenesDOCK1
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)esv2497278
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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