A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724824



Internal ID9959126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:4198426..4240466hg38UCSC Ensembl
Outerchr3:4240110..4282150hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3842041
hg1942041
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6929631, essv6748157
SamplesSSM020, SSM056
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)esv2724824
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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