A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2607781



Internal ID8671339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:66133038..66136617hg38UCSC Ensembl
Outerchr12:66526818..66530397hg19UCSC Ensembl
Outerchr12:64813085..64816664hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg383580
hg193580
hg183580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5339644
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)esv2607781
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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