A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2496304



Internal ID8559862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:100323031..100324692hg38UCSC Ensembl
Outerchr4:101244188..101245849hg19UCSC Ensembl
Outerchr4:101463211..101464872hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg381662
hg191662
hg181662
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5385591
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)esv2496304
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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