A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5343274



Internal ID8435009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134729310..134729834hg38UCSC Ensembl
Outerchr9:137621156..137621680hg19UCSC Ensembl
Outerchr9:136760977..136761501hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38656
hg19656
hg18656
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2493043
Supporting Variants
SamplesNA18507
Known GenesCOL5A1
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)essv5343274
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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