A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2495874



Internal ID8559432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21719676..21723477hg38UCSC Ensembl
Outerchr19:21902478..21906279hg19UCSC Ensembl
Outerchr19:21694318..21698119hg18UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg383802
hg193802
hg183802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5194574
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)esv2495874
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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