A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726047



Internal ID10309683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:151016722..151017217hg38UCSC Ensembl
Outerchr3:150734509..150735004hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38496
hg19496
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6739383, essv6742614, essv6872211, essv6670006, essv6899116, essv6955857, essv6781541, essv6859973
SamplesSSM100, SSM088, SSM026, SSM031, SSM068, SSM053, SSM091, SSM052
Known GenesCLRN1-AS1
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)esv2726047
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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