A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3564201



Internal ID18418591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:87370731..87371008hg38UCSC Ensembl
Outerchr4:87370700..87371071hg38UCSC Ensembl
Innerchr4:88291883..88292160hg19UCSC Ensembl
Outerchr4:88291852..88292223hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38372
hg19372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9762948
Samples
Known GenesHSD17B11
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3564201
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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