A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630852



Internal ID6670985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116567434..116569881hg38UCSC Ensembl
Innerchr12:116567452..116569863hg38UCSC Ensembl
Outerchr12:116567416..116569899hg38UCSC Ensembl
chr12:117005239..117007686hg19UCSC Ensembl
Innerchr12:117005257..117007668hg19UCSC Ensembl
Outerchr12:117005221..117007704hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg382448
hg192448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14611009, essv14611008, essv14611007
SamplesNA18642, HG00452, HG00581
Known GenesMAP1LC3B2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630852
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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