A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735511



Internal ID10319147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:154676346..154676454hg38UCSC Ensembl
Outerchr7:154468056..154468164hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6671718, essv6964370, essv6855817
SamplesSSM027, SSM087, SSM031
Known GenesDPP6
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)esv2735511
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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