A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2624056



Internal ID8687614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110481855..110482406hg38UCSC Ensembl
Outerchr13:111134202..111134753hg19UCSC Ensembl
Outerchr13:109932203..109932754hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38509
hg19509
hg18509
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5182179
SamplesNA18507
Known GenesCOL4A2
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)esv2624056
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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