A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16299988



Internal ID2792293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:26598126..26602892hg38UCSC Ensembl
Innerchr21:26598132..26602886hg38UCSC Ensembl
Outerchr21:26598120..26602898hg38UCSC Ensembl
chr21:27970445..27975211hg19UCSC Ensembl
Innerchr21:27970451..27975205hg19UCSC Ensembl
Outerchr21:27970439..27975217hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg384767
hg194767
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646737
Supporting Variants
SamplesHG02465
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16299988
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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