A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735194



Internal ID10318830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:135797407..135797546hg38UCSC Ensembl
Outerchr7:135482155..135482294hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6855760, essv6687558, essv6964299, essv6818647
SamplesSSM027, SSM087, SSM035, SSM078
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)esv2735194
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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