A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628958



Internal ID7015780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:28068093..28069219hg38UCSC Ensembl
Innerchr12:28068117..28069196hg38UCSC Ensembl
Outerchr12:28068070..28069243hg38UCSC Ensembl
chr12:28221026..28222152hg19UCSC Ensembl
Innerchr12:28221050..28222129hg19UCSC Ensembl
Outerchr12:28221003..28222176hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg381127
hg191127
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14420199, essv14420198, essv14420200
SamplesHG01122, HG02555, HG01392
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628958
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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