A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16334182



Internal ID6336082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44916487..44942284hg38UCSC Ensembl
Innerchr21:44916537..44942234hg38UCSC Ensembl
Outerchr21:44916437..44942334hg38UCSC Ensembl
chr21:46336402..46362199hg19UCSC Ensembl
Innerchr21:46336452..46362149hg19UCSC Ensembl
Outerchr21:46336352..46362249hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3825798
hg1925798
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647138
Supporting Variants
SamplesHG02141
Known GenesC21orf67, FAM207A, ITGB2, ITGB2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16334182
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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