A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34341



Internal ID12990380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:65018008..65603718hg38UCSC Ensembl
Innerchr7:64478386..65068631hg19UCSC Ensembl
Innerchr7:64115821..64706066hg18UCSC Ensembl
Innerchr7:63922536..64512781hg17UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38585711
hg19590246
hg18590246
hg17590246
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv227e55
Supporting Variantsessv6978125, essv6978124, essv6989000, essv6987332
SamplesNA11840
Known GenesCCT6P3, ZNF92
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34341
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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