A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629542



Internal ID6669681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53535245..53536033hg38UCSC Ensembl
Innerchr12:53535250..53536028hg38UCSC Ensembl
Outerchr12:53535240..53536038hg38UCSC Ensembl
chr12:53929029..53929817hg19UCSC Ensembl
Innerchr12:53929034..53929812hg19UCSC Ensembl
Outerchr12:53929024..53929822hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38789
hg19789
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14483866, essv14483862, essv14483859, essv14483860, essv14483861, essv14483865, essv14483863, essv14483858, essv14483864
SamplesNA20351, HG03558, HG03162, HG03300, HG03520, HG02537, NA18878, HG02309, NA18907
Known GenesATF7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629542
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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