A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725080



Internal ID10308716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:29928567..29929016hg38UCSC Ensembl
Outerchr3:29970058..29970507hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg38450
hg19450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6922298, essv6947038, essv6825561, essv6942417, essv6683280, essv6793850, essv6693370, essv6955674, essv6847873, essv6881409, essv6968528
SamplesSSM071, SSM024, SSM023, SSM028, SSM018, SSM026, SSM086, SSM080, SSM037, SSM034, SSM012
Known GenesRBMS3
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)esv2725080
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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