A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6914441



Internal ID9678886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:48561458..48561946hg38UCSC Ensembl
Outerchr3:48598891..48599379hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38489
hg19489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725247
Supporting Variants
SamplesSSM016
Known GenesUCN2
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)essv6914441
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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