A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723484



Internal ID10307120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:223636541..223636998hg38UCSC Ensembl
Outerchr1:223824243..223824700hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38458
hg19458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv50e201
Supporting Variantsessv6906280, essv6816797, essv6950725, essv6853494, essv6864170, essv6859397, essv6801760, essv6829163, essv6692955, essv6825161, essv6968115, essv6686302, essv6889163, essv6750747, essv6669233
SamplesSSM087, SSM097, SSM073, SSM088, SSM057, SSM028, SSM089, SSM035, SSM031, SSM014, SSM081, SSM078, SSM080, SSM037, SSM025
Known GenesCAPN8
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)esv2723484
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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