A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2435482



Internal ID8499041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:126539307..126540161hg38UCSC Ensembl
Outerchr3:126258150..126259004hg19UCSC Ensembl
Outerchr3:127740840..127741694hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38345
hg19345
hg18345
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5174171
SamplesNA18507
Known GenesCHST13
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)esv2435482
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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