A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543167



Internal ID18397557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179395941..179396382hg38UCSC Ensembl
Outerchr1:179395922..179396415hg38UCSC Ensembl
Innerchr1:179365076..179365517hg19UCSC Ensembl
Outerchr1:179365057..179365550hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38494
hg19494
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741914
Samples
Known GenesAXDND1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543167
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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