A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734975



Internal ID10318611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:105667382..105667735hg38UCSC Ensembl
Outerchr7:105307829..105308182hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38354
hg19354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6799216, essv6964265, essv6858031, essv6957567, essv6701445, essv6705339, essv6822748, essv6778538, essv6849663, essv6808681, essv6687534, essv6855727, essv6805711, essv6681299, essv6715842, essv6975371
SamplesSSM027, SSM075, SSM011, SSM079, SSM087, SSM039, SSM074, SSM029, SSM026, SSM035, SSM067, SSM086, SSM040, SSM072, SSM005, SSM043
Known GenesATXN7L1
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)esv2734975
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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