A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628844



Internal ID7015666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23135597..23144817hg38UCSC Ensembl
Innerchr12:23135597..23144817hg38UCSC Ensembl
Outerchr12:23135328..23145108hg38UCSC Ensembl
chr12:23288531..23297751hg19UCSC Ensembl
Innerchr12:23288531..23297751hg19UCSC Ensembl
Outerchr12:23288262..23298042hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg389221
hg199221
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14410197
SamplesHG01679
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628844
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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