A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2538326



Internal ID8601884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:2480590..2481328hg38UCSC Ensembl
Outerchr19:2480588..2481326hg19UCSC Ensembl
Outerchr19:2431588..2432326hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38459
hg19459
hg18459
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5266081
SamplesNA18507
Known Genes
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)esv2538326
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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