A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723473



Internal ID10307109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:223635692..223636966hg38UCSC Ensembl
Outerchr1:223823394..223824668hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381275
hg191275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6906280, essv6816797, essv6853494, essv6864170, essv6859397, essv6829163, essv6769699, essv6692955, essv6825161, essv6686302, essv6847296, essv6669233
SamplesSSM065, SSM087, SSM088, SSM089, SSM035, SSM031, SSM014, SSM086, SSM081, SSM078, SSM080, SSM037
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)esv2723473
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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