A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724893



Internal ID9959195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:10018605..10019053hg38UCSC Ensembl
Outerchr3:10060289..10060737hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6917965
SamplesSSM017
Known GenesCIDECP
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)esv2724893
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer