A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6922591



Internal ID9685085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:55445063..55445253hg38UCSC Ensembl
Outerchr4:56311230..56311420hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727634, esv2727633
Supporting Variants
SamplesSSM018
Known GenesCLOCK
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6922591
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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