A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629722



Internal ID7016543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:61633452..61636401hg38UCSC Ensembl
Innerchr12:61633488..61636366hg38UCSC Ensembl
Outerchr12:61633417..61636437hg38UCSC Ensembl
chr12:62027233..62030182hg19UCSC Ensembl
Innerchr12:62027269..62030147hg19UCSC Ensembl
Outerchr12:62027198..62030218hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg382950
hg192950
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14508350
SamplesHG03175
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629722
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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