A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735253



Internal ID10318889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:141920619..141926745hg38UCSC Ensembl
Outerchr7:141620419..141626545hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg386127
hg196127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6690792, essv6701480, essv6763975, essv6737233, essv6715867, essv6705362, essv6957616, essv6778561, essv6814655, essv6964313, essv6911676, essv6680730, essv6798553
SamplesSSM036, SSM008, SSM027, SSM039, SSM009, SSM050, SSM026, SSM067, SSM033, SSM040, SSM015, SSM077, SSM043
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)esv2735253
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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