A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725067



Internal ID10308703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:27092870..27093748hg38UCSC Ensembl
Outerchr3:27134361..27135239hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg38879
hg19879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6954561, essv6793849, essv6766925, essv6910592, essv6730118, essv6847870, essv6785575
SamplesSSM071, SSM064, SSM047, SSM069, SSM086, SSM015, SSM004
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)esv2725067
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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