A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724807



Internal ID9959109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:2526683..2534923hg38UCSC Ensembl
Outerchr3:2568367..2576607hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg388241
hg198241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6739271, essv6840469
SamplesSSM084, SSM052
Known GenesCNTN4
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)esv2724807
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