A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735193



Internal ID10318829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:135797241..135798027hg38UCSC Ensembl
Outerchr7:135481989..135482775hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38787
hg19787
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6866023, essv6919222, essv6907949, essv6701474, essv6740294, essv6855760, essv6948169, essv6969772, essv6687558, essv6748995, essv6964299, essv6890787, essv6818647
SamplesSSM027, SSM024, SSM087, SSM039, SSM028, SSM089, SSM017, SSM035, SSM014, SSM078, SSM052, SSM056, SSM012
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)esv2735193
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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