A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9760631



Internal ID18734877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52499621..52499915hg38UCSC Ensembl
Outerchr3:52499608..52499946hg38UCSC Ensembl
Innerchr3:52533637..52533931hg19UCSC Ensembl
Outerchr3:52533624..52533962hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3561884
Supporting Variants
Samples
Known GenesSTAB1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9760631
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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