A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630646



Internal ID6670780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104484244..104492812hg38UCSC Ensembl
Innerchr12:104484244..104492812hg38UCSC Ensembl
Outerchr12:104484093..104493028hg38UCSC Ensembl
chr12:104878022..104886590hg19UCSC Ensembl
Innerchr12:104878022..104886590hg19UCSC Ensembl
Outerchr12:104877871..104886806hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg388569
hg198569
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14597250
SamplesHG02522
Known GenesCHST11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630646
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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