A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10487663



Internal ID489479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46064113..46070530hg38UCSC Ensembl
Innerchr2:46064263..46070380hg38UCSC Ensembl
Outerchr2:46063963..46070680hg38UCSC Ensembl
chr2:46291252..46297669hg19UCSC Ensembl
Innerchr2:46291402..46297519hg19UCSC Ensembl
Outerchr2:46291102..46297819hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg386418
hg196418
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590600
Supporting Variants
SamplesHG01961
Known GenesPRKCE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10487663
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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