A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2430031



Internal ID8493589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:185519759..185523453hg38UCSC Ensembl
Outerchr4:186440913..186444607hg19UCSC Ensembl
Outerchr4:186677907..186681601hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg383695
hg193695
hg183695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5305662
SamplesNA18507
Known GenesPDLIM3
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)esv2430031
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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