A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628696



Internal ID7015520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:16789304..16790695hg38UCSC Ensembl
Innerchr12:16789354..16790645hg38UCSC Ensembl
Outerchr12:16789254..16790745hg38UCSC Ensembl
chr12:16942238..16943629hg19UCSC Ensembl
Innerchr12:16942288..16943579hg19UCSC Ensembl
Outerchr12:16942188..16943679hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg381392
hg191392
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14398123, essv14398122
SamplesNA18991, NA18989
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628696
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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