A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9762948



Internal ID18390508
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 StatusS
Merged Variantsesv3564201
Supporting Variants
Samples
Known GenesHSD17B11
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9762948
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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