A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630551



Internal ID7017368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100240330..100246181hg38UCSC Ensembl
Innerchr12:100240330..100246181hg38UCSC Ensembl
Outerchr12:100240115..100246411hg38UCSC Ensembl
chr12:100634108..100639959hg19UCSC Ensembl
Innerchr12:100634108..100639959hg19UCSC Ensembl
Outerchr12:100633893..100640189hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg385852
hg195852
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14587397
SamplesNA18537
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630551
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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