A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630844



Internal ID6670977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116088654..116090690hg38UCSC Ensembl
Innerchr12:116088658..116090687hg38UCSC Ensembl
Outerchr12:116088651..116090694hg38UCSC Ensembl
chr12:116526459..116528495hg19UCSC Ensembl
Innerchr12:116526463..116528492hg19UCSC Ensembl
Outerchr12:116526456..116528499hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg382037
hg192037
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14610981, essv14610979, essv14610980
SamplesNA11931, HG01685, HG00105
Known GenesMED13L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630844
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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