A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2491134



Internal ID8208006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:202230541..202232095hg38UCSC Ensembl
Outerchr2:203095264..203096818hg19UCSC Ensembl
Outerchr2:202803509..202805063hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381555
hg191555
hg181555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5280689
SamplesNA18507
Known GenesSUMO1
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)esv2491134
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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