A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5264519



Internal ID8356254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:115374114..115375075hg38UCSC Ensembl
Outerchr12:115811919..115812880hg19UCSC Ensembl
Outerchr12:114296302..114297263hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38228
hg19228
hg18228
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2563897
Supporting Variants
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)essv5264519
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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