A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725371



Internal ID10309007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:66712747..66713051hg38UCSC Ensembl
Outerchr3:66763171..66763475hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6938235, essv6847928, essv6679713
SamplesSSM086, SSM033, SSM022
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)esv2725371
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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