A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6869293



Internal ID9919161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:42021831..42022049hg38UCSC Ensembl
Outerchr4:42023848..42024066hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727490
Supporting Variants
SamplesSSM090
Known GenesSLC30A9
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)essv6869293
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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