A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2635642



Internal ID8699200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:69285419..69286627hg38UCSC Ensembl
Outerchr12:69679199..69680407hg19UCSC Ensembl
Outerchr12:67965466..67966674hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38167
hg19167
hg18167
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5218720
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)esv2635642
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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