A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560620



Internal ID18761696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:179557495..179557580hg38UCSC Ensembl
Outerchr2:179557492..179557581hg38UCSC Ensembl
Innerchr2:180422222..180422307hg19UCSC Ensembl
Outerchr2:180422219..180422308hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759367
Samples
Known GenesZNF385B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560620
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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