A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2518569



Internal ID8235441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:112776018..112777424hg38UCSC Ensembl
Outerchr2:113533595..113535001hg19UCSC Ensembl
Outerchr2:113250066..113251472hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg381407
hg191407
hg181407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5381204
SamplesNA18507
Known GenesIL1A
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)esv2518569
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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