A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2651616



Internal ID8368488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:99138889..99140010hg38UCSC Ensembl
Outerchr12:99532667..99533788hg19UCSC Ensembl
Outerchr12:98056798..98057919hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38211
hg19211
hg18211
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5284859
SamplesNA18507
Known GenesANKS1B
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)esv2651616
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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