A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5337670



Internal ID8082719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:73897704..73898575hg38UCSC Ensembl
Outerchr2:74124831..74125702hg19UCSC Ensembl
Outerchr2:73978339..73979210hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38287
hg19287
hg18287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2566981
Supporting Variants
SamplesNA18507
Known GenesACTG2
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)essv5337670
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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