A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646572



Internal ID7033316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:21354597..21359401hg38UCSC Ensembl
Innerchr21:21354597..21359401hg38UCSC Ensembl
Outerchr21:21354514..21359483hg38UCSC Ensembl
chr21:22726917..22731721hg19UCSC Ensembl
Innerchr21:22726917..22731721hg19UCSC Ensembl
Outerchr21:22726834..22731803hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg384805
hg194805
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16279487
SamplesNA18623
Known GenesNCAM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646572
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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