A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5222990



Internal ID8314725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:46682375..46683968hg38UCSC Ensembl
Outerchr2:46909514..46911107hg19UCSC Ensembl
Outerchr2:46763018..46764611hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381594
hg191594
hg181594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2548666
Supporting Variants
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)essv5222990
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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