A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542518



Internal ID18743594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140413297..140416062hg38UCSC Ensembl
Outerchr7:140413291..140416078hg38UCSC Ensembl
Innerchr7:140113097..140115862hg19UCSC Ensembl
Outerchr7:140113091..140115878hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg382788
hg192788
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741265
Samples
Known GenesRAB19
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542518
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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