A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735252



Internal ID9969582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:141913770..141913945hg38UCSC Ensembl
Outerchr7:141613570..141613745hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6671674, essv6719791, essv6943841
SamplesSSM023, SSM031, SSM044
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)esv2735252
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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