A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629853



Internal ID7016674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68628596..68639398hg38UCSC Ensembl
Innerchr12:68628596..68639398hg38UCSC Ensembl
Outerchr12:68628311..68639653hg38UCSC Ensembl
chr12:69022376..69033178hg19UCSC Ensembl
Innerchr12:69022376..69033178hg19UCSC Ensembl
Outerchr12:69022091..69033433hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3810803
hg1910803
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14520137, essv14520138, essv14520135, essv14520136
SamplesNA20810, NA19461, NA19472, NA19431
Known GenesRAP1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629853
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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