A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3546286



Internal ID18400676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:51444154..51453104hg38UCSC Ensembl
Outerchr10:51442077..51454740hg38UCSC Ensembl
Innerchr10:53203914..53212864hg19UCSC Ensembl
Outerchr10:53201837..53214500hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3812664
hg1912664
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9745033
Samples
Known GenesPRKG1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3546286
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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