A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631010



Internal ID6671143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124288701..124749461hg38UCSC Ensembl
Innerchr12:124288851..124749311hg38UCSC Ensembl
Outerchr12:124288551..124749611hg38UCSC Ensembl
chr12:124773247..125234007hg19UCSC Ensembl
Innerchr12:124773397..125233857hg19UCSC Ensembl
Outerchr12:124773097..125234157hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38460761
hg19460761
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14622665, essv14622664, essv14622666, essv14622667, essv14622663
SamplesHG01357, NA20759, NA20529, HG02322, HG00623
Known GenesFAM101A, MIR6880, NCOR2, ZNF664-FAM101A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631010
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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