A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2537876



Internal ID8254748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:182852680..182853453hg38UCSC Ensembl
Outerchr1:182821815..182822588hg19UCSC Ensembl
Outerchr1:181088438..181089211hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38438
hg19438
hg18438
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5363012
SamplesNA18507
Known GenesDHX9
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)esv2537876
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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