A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2639640



Internal ID8356512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:919084..921096hg38UCSC Ensembl
Outerchr12:1028250..1030262hg19UCSC Ensembl
Outerchr12:898511..900523hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382013
hg192013
hg182013
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5203995
SamplesNA18507
Known GenesRAD52
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)esv2639640
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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