A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542610



Internal ID18743686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147657974..147658221hg38UCSC Ensembl
Outerchr7:147657951..147658281hg38UCSC Ensembl
Innerchr7:147355066..147355313hg19UCSC Ensembl
Outerchr7:147355043..147355373hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv455e215
Supporting Variantsessv9741357
Samples
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542610
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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