A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16290973



Internal ID3341434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:23722345..23813904hg38UCSC Ensembl
Innerchr21:23722345..23813904hg38UCSC Ensembl
Outerchr21:23721845..23814404hg38UCSC Ensembl
chr21:25094662..25186221hg19UCSC Ensembl
Innerchr21:25094662..25186221hg19UCSC Ensembl
Outerchr21:25094162..25186721hg19UCSC Ensembl
Cytoband21q21.2
Allele length
AssemblyAllele length
hg3891560
hg1991560
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646661
Supporting Variants
SamplesHG02981
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16290973
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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