A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5256867



Internal ID8001916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:29420171..29421648hg38UCSC Ensembl
Outerchr12:29573104..29574581hg19UCSC Ensembl
Outerchr12:29464371..29465848hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg381478
hg191478
hg181478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2458414
Supporting Variants
SamplesNA18507
Known GenesOVCH1-AS1
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)essv5256867
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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