A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628801



Internal ID6668943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21041877..21043410hg38UCSC Ensembl
Innerchr12:21041889..21043398hg38UCSC Ensembl
Outerchr12:21041865..21043422hg38UCSC Ensembl
chr12:21194811..21196344hg19UCSC Ensembl
Innerchr12:21194823..21196332hg19UCSC Ensembl
Outerchr12:21194799..21196356hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg381534
hg191534
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14406009, essv14406008
SamplesHG00356, HG00181
Known GenesSLCO1B7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628801
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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