A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2481105



Internal ID8544664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:230460003..230461600hg38UCSC Ensembl
Outerchr2:231324718..231326315hg19UCSC Ensembl
Outerchr2:231032962..231034559hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381598
hg191598
hg181598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5241034
SamplesNA18507
Known GenesSP100
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)esv2481105
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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