A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630213



Internal ID7017032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:84259810..84466487hg38UCSC Ensembl
chr12:84653589..84860266hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38206678
hg19206678
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14554306
SamplesNA19475
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630213
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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