A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2507862



Internal ID8571420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:130758401..130760007hg38UCSC Ensembl
Outerchr12:131242946..131244552hg19UCSC Ensembl
Outerchr12:129808899..129810505hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381607
hg191607
hg181607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5233887
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)esv2507862
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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