A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3561127



Internal ID18762203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40556669..40562400hg38UCSC Ensembl
Outerchr1:40555772..40563328hg38UCSC Ensembl
Innerchr1:41022341..41028072hg19UCSC Ensembl
Outerchr1:41021444..41029000hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg387557
hg197557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759874
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3561127
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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