A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630100



Internal ID6670238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80072715..80112445hg38UCSC Ensembl
Innerchr12:80072715..80112445hg38UCSC Ensembl
Outerchr12:80072215..80112945hg38UCSC Ensembl
chr12:80466495..80506225hg19UCSC Ensembl
Innerchr12:80466495..80506225hg19UCSC Ensembl
Outerchr12:80465995..80506725hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3839731
hg1939731
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14547937, essv14547936
SamplesHG01617, HG00593
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630100
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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