A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16268730



Internal ID5822184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:15251836..15256628hg38UCSC Ensembl
Innerchr21:15251836..15256628hg38UCSC Ensembl
Outerchr21:15251576..15256888hg38UCSC Ensembl
chr21:16624155..16628947hg19UCSC Ensembl
Innerchr21:16624155..16628947hg19UCSC Ensembl
Outerchr21:16623895..16629207hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg384793
hg194793
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646444
Supporting Variants
SamplesNA19200
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16268730
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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