A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2598987



Internal ID8662546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:129669018..129670714hg38UCSC Ensembl
Outerchr4:130590173..130591869hg19UCSC Ensembl
Outerchr4:130809623..130811319hg18UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg381697
hg191697
hg181697
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5238618
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)esv2598987
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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