A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629870



Internal ID7016691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69631636..69637193hg38UCSC Ensembl
Innerchr12:69631636..69637193hg38UCSC Ensembl
Outerchr12:69631136..69637693hg38UCSC Ensembl
chr12:70025416..70030973hg19UCSC Ensembl
Innerchr12:70025416..70030973hg19UCSC Ensembl
Outerchr12:70024916..70031473hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg385558
hg195558
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14521857
SamplesHG02330
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629870
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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