A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737225



Internal ID10320861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:81334260..81334476hg38UCSC Ensembl
Outerchr8:82246495..82246711hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38217
hg19217
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1214e201
Supporting Variantsessv6904364, essv6694889, essv6733865, essv6866378, essv6856237, essv6915636, essv6958182, essv6677206, essv6701788, essv6823033, essv6964785, essv6884699, essv6887535, essv6830709, essv6897212, essv6752119
SamplesSSM027, SSM079, SSM087, SSM039, SSM013, SSM057, SSM096, SSM026, SSM089, SSM032, SSM007, SSM016, SSM037, SSM010, SSM095, SSM099
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)esv2737225
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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