A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14405998



Internal ID4407814
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628797
Supporting Variants
SamplesHG00759
Known GenesSLCO1B3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14405998
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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