A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724963



Internal ID10308599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:15272551..15272670hg38UCSC Ensembl
Outerchr3:15314058..15314177hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847851, essv6669812, essv6854032
SamplesSSM087, SSM031, SSM086
Known GenesSH3BP5
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)esv2724963
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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