A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2462282



Internal ID8525840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238591082..238593818hg38UCSC Ensembl
Outerchr2:239499723..239502459hg19UCSC Ensembl
Outerchr2:239164462..239167198hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382737
hg192737
hg182737
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5258552
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)esv2462282
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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