A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5183115



Internal ID7928164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:269436..270959hg38UCSC Ensembl
Outerchr4:263225..264748hg19UCSC Ensembl
Outerchr4:253225..254748hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381524
hg191524
hg181524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2462495
Supporting Variants
SamplesNA18507
Known GenesZNF732
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)essv5183115
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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