A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5247437



Internal ID8339172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:186291985..186294063hg38UCSC Ensembl
Outerchr4:187213139..187215217hg19UCSC Ensembl
Outerchr4:187450133..187452211hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg382079
hg192079
hg182079
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2505993
Supporting Variants
SamplesNA18507
Known GenesF11-AS1
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)essv5247437
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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