A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628797



Internal ID6668939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20864188..20883833hg38UCSC Ensembl
Innerchr12:20864219..20883803hg38UCSC Ensembl
Outerchr12:20864158..20883864hg38UCSC Ensembl
chr12:21017122..21036767hg19UCSC Ensembl
Innerchr12:21017153..21036737hg19UCSC Ensembl
Outerchr12:21017092..21036798hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3819646
hg1919646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14406001, essv14406000, essv14405999, essv14405998
SamplesHG00759, HG01531, HG01485, NA12399
Known GenesSLCO1B3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628797
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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