A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3561937



Internal ID18416327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:52951551..52953768hg38UCSC Ensembl
Outerchr1:52951347..52954176hg38UCSC Ensembl
Innerchr1:53417223..53419440hg19UCSC Ensembl
Outerchr1:53417019..53419848hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382830
hg192830
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9760684
Samples
Known GenesSCP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3561937
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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