A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5181649



Internal ID7926698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:61441..62770hg38UCSC Ensembl
Outerchr4:61333..62662hg19UCSC Ensembl
Outerchr4:51333..52662hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381330
hg191330
hg181330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2460685
Supporting Variants
SamplesNA18507
Known GenesZNF595, ZNF718
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)essv5181649
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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