A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734170



Internal ID10317806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:27474664..27474985hg38UCSC Ensembl
Outerchr7:27514283..27514604hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6811473, essv6782451, essv6805624, essv6975201, essv6856809, essv6957409, essv6861132, essv6878771, essv6893727, essv6964109, essv6884402, essv6849468, essv6907794, essv6671459
SamplesSSM027, SSM011, SSM093, SSM074, SSM088, SSM029, SSM026, SSM031, SSM014, SSM086, SSM068, SSM076, SSM095, 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)esv2734170
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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