A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2635288



Internal ID8698846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:202544602..202545831hg38UCSC Ensembl
Outerchr2:203409325..203410554hg19UCSC Ensembl
Outerchr2:203117570..203118799hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38144
hg19144
hg18144
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5242828
SamplesNA18507
Known GenesBMPR2
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)esv2635288
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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