A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16313523



Internal ID6315339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32585499..32593267hg38UCSC Ensembl
Innerchr21:32585526..32593241hg38UCSC Ensembl
Outerchr21:32585473..32593294hg38UCSC Ensembl
chr21:33957809..33965577hg19UCSC Ensembl
Innerchr21:33957836..33965551hg19UCSC Ensembl
Outerchr21:33957783..33965604hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg387769
hg197769
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646889
Supporting Variants
SamplesNA18945
Known GenesTCP10L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16313523
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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