A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543389



Internal ID18744465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:182114866..182118458hg38UCSC Ensembl
Outerchr1:182114641..182119365hg38UCSC Ensembl
Innerchr1:182084001..182087593hg19UCSC Ensembl
Outerchr1:182083776..182088500hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg384725
hg194725
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742136
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543389
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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