A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630569



Internal ID7017386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101447545..101467148hg38UCSC Ensembl
Innerchr12:101448045..101466648hg38UCSC Ensembl
Outerchr12:101446545..101468148hg38UCSC Ensembl
chr12:101841323..101860926hg19UCSC Ensembl
Innerchr12:101841823..101860426hg19UCSC Ensembl
Outerchr12:101840323..101861926hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3819604
hg1919604
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv298e214
Supporting Variantsessv14590092
SamplesNA19681
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630569
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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