A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725315



Internal ID10308951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:59413425..59413798hg38UCSC Ensembl
Outerchr3:59399151..59399524hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38374
hg19374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847924, essv6848754, essv6793874, essv6821712
SamplesSSM071, SSM011, SSM079, SSM086
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)esv2725315
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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