A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3347888



Internal ID15194870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107462345..107463943hg38UCSC Ensembl
Innerchr12:107462943..107463345hg38UCSC Ensembl
Outerchr12:107461345..107464943hg38UCSC Ensembl
chr12:107856122..107857720hg19UCSC Ensembl
Innerchr12:107856720..107857122hg19UCSC Ensembl
Outerchr12:107855122..107858720hg19UCSC Ensembl
chr12:106380252..106381850hg18UCSC Ensembl
Innerchr12:106381252..106380850hg18UCSC Ensembl
Outerchr12:106379252..106382850hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv910e59
Supporting Variantsessv8688543
SamplesNA19239
Known GenesBTBD11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3347888
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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