A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9739380



Internal ID18713626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:150718979..150719287hg38UCSC Ensembl
Outerchr1:150718918..150719344hg38UCSC Ensembl
Innerchr1:150691455..150691763hg19UCSC Ensembl
Outerchr1:150691394..150691820hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38427
hg19427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3540633
Supporting Variants
Samples
Known GenesHORMAD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9739380
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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