A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628438



Internal ID7015262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7735981..7742384hg38UCSC Ensembl
Innerchr12:7736481..7741884hg38UCSC Ensembl
Outerchr12:7734981..7743384hg38UCSC Ensembl
chr12:7888577..7894980hg19UCSC Ensembl
Innerchr12:7889077..7894480hg19UCSC Ensembl
Outerchr12:7887577..7895980hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg386404
hg196404
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14349698, essv14349697
SamplesNA19440, NA19072
Known GenesCLEC4C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628438
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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