A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3546533



Internal ID18400923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:215684845..215688988hg38UCSC Ensembl
Outerchr1:215684659..215689899hg38UCSC Ensembl
Innerchr1:215858187..215862330hg19UCSC Ensembl
Outerchr1:215858001..215863241hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg385241
hg195241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9745280
Samples
Known GenesUSH2A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3546533
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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