A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630002



Internal ID7016822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:74982260..74992678hg38UCSC Ensembl
Innerchr12:74982260..74992678hg38UCSC Ensembl
Outerchr12:74982134..74992805hg38UCSC Ensembl
chr12:75376040..75386458hg19UCSC Ensembl
Innerchr12:75376040..75386458hg19UCSC Ensembl
Outerchr12:75375914..75386585hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3810419
hg1910419
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14537948
SamplesHG02260
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630002
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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