A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6697477



Internal ID10111951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:190713727..190726882hg38UCSC Ensembl
Outerchr3:190431516..190444671hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3813156
hg1913156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726384
Supporting Variants
SamplesSSM038
Known Genes
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)essv6697477
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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