A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647163



Internal ID6687218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46176351..46181304hg38UCSC Ensembl
Innerchr21:46176355..46181300hg38UCSC Ensembl
Outerchr21:46176347..46181308hg38UCSC Ensembl
chr21:47596265..47601218hg19UCSC Ensembl
Innerchr21:47596269..47601214hg19UCSC Ensembl
Outerchr21:47596261..47601222hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384954
hg194954
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16345328
SamplesHG02808
Known GenesSPATC1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647163
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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