A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630974



Internal ID6671107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122293591..122294306hg38UCSC Ensembl
Innerchr12:122293641..122294256hg38UCSC Ensembl
Outerchr12:122293541..122294356hg38UCSC Ensembl
chr12:122778138..122778853hg19UCSC Ensembl
Innerchr12:122778188..122778803hg19UCSC Ensembl
Outerchr12:122778088..122778903hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38716
hg19716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14621415, essv14621412, essv14621443, essv14621431, essv14621410, essv14621441, essv14621424, essv14621432, essv14621421, essv14621418, essv14621419, essv14621427, essv14621440, essv14621435, essv14621417, essv14621434, essv14621437, essv14621414, essv14621411, essv14621442, essv14621429, essv14621416, essv14621436, essv14621425, essv14621423, essv14621444, essv14621420, essv14621430, essv14621428, essv14621413, essv14621426, essv14621439, essv14621422, essv14621433, essv14621438
SamplesHG02140, HG00881, HG02250, HG03698, HG00619, HG01811, NA18648, HG01850, HG03920, HG02389, HG01795, HG00634, HG00436, NA19080, NA18620, NA18748, HG02084, HG02113, HG04134, HG02374, NA18582, HG02134, HG01799, HG02075, HG03018, HG02353, NA19315, HG00625, HG00690, HG00476, NA19454, HG01807, HG00704, HG02130, HG02367
Known GenesCLIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630974
Frequency
Sample Size2504
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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