A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630696



Internal ID7017511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107880619..107885709hg38UCSC Ensembl
Innerchr12:107880635..107885693hg38UCSC Ensembl
Outerchr12:107880603..107885725hg38UCSC Ensembl
chr12:108274396..108279486hg19UCSC Ensembl
Innerchr12:108274412..108279470hg19UCSC Ensembl
Outerchr12:108274380..108279502hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg385091
hg195091
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14603448, essv14603449
SamplesNA19031, NA18876
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630696
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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