A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647044



Internal ID6687100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40617165..40618627hg38UCSC Ensembl
Innerchr21:40617185..40618608hg38UCSC Ensembl
Outerchr21:40617146..40618647hg38UCSC Ensembl
chr21:41989091..41990553hg19UCSC Ensembl
Innerchr21:41989111..41990534hg19UCSC Ensembl
Outerchr21:41989072..41990573hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg381463
hg191463
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16321872
SamplesHG00731
Known GenesDSCAM, DSCAM-IT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647044
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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