A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2599797



Internal ID8663355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:35626780..35628622hg38UCSC Ensembl
Outerchr19:36117682..36119524hg19UCSC Ensembl
Outerchr19:40809522..40811364hg18UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg381843
hg191843
hg181843
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5321885
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)esv2599797
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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