A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628789



Internal ID7015612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20732098..20732879hg38UCSC Ensembl
Innerchr12:20732121..20732856hg38UCSC Ensembl
Outerchr12:20732075..20732902hg38UCSC Ensembl
chr12:20885032..20885813hg19UCSC Ensembl
Innerchr12:20885055..20885790hg19UCSC Ensembl
Outerchr12:20885009..20885836hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38782
hg19782
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14404207, essv14404208
SamplesNA18566, HG02086
Known GenesSLCO1C1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628789
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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