A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725078



Internal ID10308714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:29578765..29579087hg38UCSC Ensembl
Outerchr3:29620256..29620578hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6711107, essv6697369, essv6836683, essv6938208, essv6675722, essv6854050
SamplesSSM083, SSM087, SSM038, SSM042, SSM032, SSM022
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)esv2725078
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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