A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6975411



Internal ID9735914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:132132436..132132567hg38UCSC Ensembl
Outerchr7:131817195..131817326hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735161, esv2735160
Supporting Variants
SamplesSSM029
Known GenesPLXNA4
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)essv6975411
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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