A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9761474



Internal ID18389034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:151794523..151830118hg38UCSC Ensembl
Outerchr3:151792826..151836712hg38UCSC Ensembl
Innerchr3:151512311..151547906hg19UCSC Ensembl
Outerchr3:151510614..151554500hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3843887
hg1943887
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3562727
Supporting Variants
Samples
Known GenesAADAC, MIR548H2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9761474
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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