A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16274977



Internal ID2563552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:17987750..18009687hg38UCSC Ensembl
chr21:19360067..19382004hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3821938
hg1921938
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646490
Supporting Variants
SamplesHG02275
Known GenesCHODL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16274977
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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