A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2502192



Internal ID8565750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:29897354..29902904hg38UCSC Ensembl
Outerchr19:30388261..30393811hg19UCSC Ensembl
Outerchr19:35080101..35085651hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg385551
hg195551
hg185551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5313613
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)esv2502192
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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