A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16326718



Internal ID4314846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43331502..43332636hg38UCSC Ensembl
Innerchr21:43331652..43332486hg38UCSC Ensembl
Outerchr21:43331352..43332786hg38UCSC Ensembl
chr21:44751382..44752516hg19UCSC Ensembl
Innerchr21:44751532..44752366hg19UCSC Ensembl
Outerchr21:44751232..44752666hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381135
hg191135
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647102
Supporting Variants
SamplesHG03867
Known GenesLINC00322
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16326718
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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