A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542966



Internal ID18744042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:176509110..176509632hg38UCSC Ensembl
Outerchr1:176509054..176509762hg38UCSC Ensembl
Innerchr1:176478246..176478768hg19UCSC Ensembl
Outerchr1:176478190..176478898hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38709
hg19709
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741713
Samples
Known GenesPAPPA2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542966
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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