A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725673



Internal ID10309309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:237590759..237591581hg38UCSC Ensembl
Outerchr1:237754059..237754881hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38823
hg19823
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6750761, essv6669264, essv6773632, essv6769718, essv6902723, essv6750209, essv6968139, essv6821374, essv6874863, essv6777116, essv6720320, essv6745093, essv6853527, essv6847335, essv6933510, essv6699807, essv6810484, essv6950753, essv6736132
SamplesSSM008, SSM079, SSM065, SSM087, SSM039, SSM013, SSM050, SSM057, SSM028, SSM092, SSM021, SSM031, SSM067, SSM086, SSM066, SSM007, SSM076, SSM055, SSM025
Known GenesRYR2
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)esv2725673
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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