A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736934



Internal ID10320570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:42072716..42073068hg38UCSC Ensembl
Outerchr8:41930234..41930586hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6827044, essv6952576, essv6705648, essv6866339, essv6823000, essv6860542, essv6672086, essv6727728, essv6911959, essv6782880, essv6712438, essv6850158, essv6684535, essv6861593, essv6879053, essv6894086, essv6731495, essv6890738
SamplesSSM046, SSM011, SSM079, SSM097, SSM093, SSM042, SSM088, SSM047, SSM089, SSM031, SSM086, SSM068, SSM040, SSM015, SSM080, SSM025, SSM034, SSM098
Known Genes
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)esv2736934
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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