A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630991



Internal ID7017805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123537790..123539592hg38UCSC Ensembl
Innerchr12:123537850..123539532hg38UCSC Ensembl
Outerchr12:123537730..123539652hg38UCSC Ensembl
chr12:124022337..124024139hg19UCSC Ensembl
Innerchr12:124022397..124024079hg19UCSC Ensembl
Outerchr12:124022277..124024199hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381803
hg191803
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14621583
SamplesNA18878
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630991
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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