A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630788



Internal ID6670922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112826334..112827135hg38UCSC Ensembl
Innerchr12:112826337..112827133hg38UCSC Ensembl
Outerchr12:112826332..112827138hg38UCSC Ensembl
chr12:113264139..113264940hg19UCSC Ensembl
Innerchr12:113264142..113264938hg19UCSC Ensembl
Outerchr12:113264137..113264943hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38802
hg19802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14606262, essv14606265, essv14606264, essv14606263
SamplesHG01864, HG02156, HG02380, HG02185
Known GenesRPH3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630788
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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