A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725398



Internal ID10309034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:70211118..70211350hg38UCSC Ensembl
Outerchr3:70260269..70260501hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6785611, essv6807827, essv6693406, essv6722550, essv6929681, essv6942459, essv6910622, essv6813652, essv6903050, essv6679718
SamplesSSM075, SSM045, SSM013, SSM023, SSM069, SSM033, SSM020, SSM015, SSM037, SSM077
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)esv2725398
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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