A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16321872



Internal ID6323688
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647044
Supporting Variants
SamplesHG00731
Known GenesDSCAM, DSCAM-IT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16321872
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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