A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628588



Internal ID7015412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11603318..11606410hg38UCSC Ensembl
Innerchr12:11603370..11606359hg38UCSC Ensembl
Outerchr12:11603267..11606462hg38UCSC Ensembl
chr12:11756252..11759344hg19UCSC Ensembl
Innerchr12:11756304..11759293hg19UCSC Ensembl
Outerchr12:11756201..11759396hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg383093
hg193093
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14383233
SamplesHG01191
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628588
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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