A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646962



Internal ID7033704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36105568..36212546hg38UCSC Ensembl
Innerchr21:36105718..36212396hg38UCSC Ensembl
Outerchr21:36105418..36212696hg38UCSC Ensembl
chr21:37477866..37584844hg19UCSC Ensembl
Innerchr21:37478016..37584694hg19UCSC Ensembl
Outerchr21:37477716..37584994hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38106979
hg19106979
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv813e214
Supporting Variantsessv16319372, essv16319370, essv16319368, essv16319369, essv16319371
SamplesHG02277, HG00356, HG00349, HG00366, HG02133
Known GenesCBR3, CBR3-AS1, DOPEY2, LOC100133286
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646962
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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