A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734909



Internal ID9969239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100993119..100995366hg38UCSC Ensembl
Outerchr7:100636400..100638647hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382248
hg192248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1107e201
Supporting Variantsessv6974817, essv6751846
SamplesSSM057, SSM001
Known GenesMUC12
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)esv2734909
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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