A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726430



Internal ID10310066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194152246..194152432hg38UCSC Ensembl
Outerchr3:193870035..193870221hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6854283, essv6922563, essv6781581, essv6947181, essv6693525, essv6872243
SamplesSSM024, SSM087, SSM003, SSM068, SSM037, SSM091
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)esv2726430
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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