A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16259624



Internal ID904648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:13834975..13861705hg38UCSC Ensembl
chr21:15207296..15234026hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3826731
hg1926731
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646399
Supporting Variants
SamplesHG00530
Known GenesC21orf15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16259624
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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