A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628284



Internal ID6668427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1472405..1478533hg38UCSC Ensembl
Innerchr12:1472455..1478483hg38UCSC Ensembl
Outerchr12:1472317..1478621hg38UCSC Ensembl
chr12:1581571..1587699hg19UCSC Ensembl
Innerchr12:1581621..1587649hg19UCSC Ensembl
Outerchr12:1581483..1587787hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg386129
hg196129
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14333829, essv14333831, essv14333830
SamplesNA20876, HG00584, HG00595
Known GenesERC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628284
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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