A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628339



Internal ID6668482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3155733..3157385hg38UCSC Ensembl
Innerchr12:3155750..3157369hg38UCSC Ensembl
Outerchr12:3155717..3157402hg38UCSC Ensembl
chr12:3264899..3266551hg19UCSC Ensembl
Innerchr12:3264916..3266535hg19UCSC Ensembl
Outerchr12:3264883..3266568hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381653
hg191653
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14338332, essv14338331
SamplesHG01851, HG00533
Known GenesTSPAN9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628339
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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