A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5237370



Internal ID7982419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6999586..7001109hg38UCSC Ensembl
Outerchr12:7107678..7108414hg19UCSC Ensembl
Outerchr12:6977939..6978675hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38589
hg19589
hg18589
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2579054
Supporting Variants
SamplesNA18507
Known GenesLPCAT3
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)essv5237370
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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