A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630767



Internal ID6670901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111806055..111808744hg38UCSC Ensembl
Innerchr12:111806105..111808694hg38UCSC Ensembl
Outerchr12:111805958..111808841hg38UCSC Ensembl
chr12:112243859..112246548hg19UCSC Ensembl
Innerchr12:112243909..112246498hg19UCSC Ensembl
Outerchr12:112243762..112246645hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg382690
hg192690
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14604437, essv14604438
SamplesHG03103, NA19439
Known GenesALDH2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630767
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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