A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630361



Internal ID7017180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:91512452..91561292hg38UCSC Ensembl
chr12:91906229..91955069hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3848841
hg1948841
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14568568, essv14568570, essv14568569
SamplesNA19355, NA19031, NA19346
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630361
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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