A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590595



Internal ID6630881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45796324..45804310hg38UCSC Ensembl
Innerchr2:45796374..45804260hg38UCSC Ensembl
Outerchr2:45796238..45804396hg38UCSC Ensembl
chr2:46023463..46031449hg19UCSC Ensembl
Innerchr2:46023513..46031399hg19UCSC Ensembl
Outerchr2:46023377..46031535hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg387987
hg197987
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10486774
SamplesHG00311
Known GenesPRKCE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590595
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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