A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2458501



Internal ID8522059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:172073532..172075033hg38UCSC Ensembl
Outerchr2:172938260..172939761hg19UCSC Ensembl
Outerchr2:172646506..172648007hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381502
hg191502
hg181502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5301102
SamplesNA18507
Known GenesMETAP1D
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)esv2458501
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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