A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630316



Internal ID6670453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:89410387..89412380hg38UCSC Ensembl
Innerchr12:89410437..89412330hg38UCSC Ensembl
Outerchr12:89410337..89412430hg38UCSC Ensembl
chr12:89804164..89806157hg19UCSC Ensembl
Innerchr12:89804214..89806107hg19UCSC Ensembl
Outerchr12:89804114..89806207hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg381994
hg191994
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14565616, essv14565615, essv14565614
SamplesHG04210, HG03754, HG03750
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630316
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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