A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737174



Internal ID10320810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:73975759..73976379hg38UCSC Ensembl
Outerchr8:74887994..74888614hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38621
hg19621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6694881, essv6919543, essv6970113, essv6900182, essv6904356, essv6720093, essv6731516, essv6681028, essv6677201, essv6911983, essv6923687, essv6964775, essv6915628, essv6771461, essv6939697, essv6805926, essv6841870, essv6850199, essv6723903
SamplesSSM100, SSM027, SSM045, SSM065, SSM013, SSM074, SSM028, SSM084, SSM047, SSM018, SSM017, SSM032, SSM044, SSM086, SSM033, SSM015, SSM016, SSM037, SSM022
Known GenesTMEM70
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)esv2737174
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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