A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724910



Internal ID9959212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:11368589..11373257hg38UCSC Ensembl
Outerchr3:11410063..11414731hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg384669
hg194669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6804815, essv6906653
SamplesSSM074, SSM014
Known GenesATG7
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)esv2724910
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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