A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725978



Internal ID10309614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:139951870..139955687hg38UCSC Ensembl
Outerchr3:139670712..139674529hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg383818
hg193818
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6723521, essv6777525, essv6872200, essv6942536, essv6878112, essv6955844, essv6673610, essv6821777, essv6807875, essv6669993, essv6697439, essv6802078
SamplesSSM075, SSM079, SSM038, SSM073, SSM093, SSM023, SSM026, SSM031, SSM067, SSM007, SSM005, SSM091
Known GenesCLSTN2
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)esv2725978
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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