A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9755068



Internal ID18382628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:48554748..48557661hg38UCSC Ensembl
Outerchr2:48554573..48557822hg38UCSC Ensembl
Innerchr2:48781887..48784800hg19UCSC Ensembl
Outerchr2:48781712..48784961hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg383250
hg193250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3556321
Supporting Variants
Samples
Known GenesSTON1, STON1-GTF2A1L
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9755068
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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