A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629795



Internal ID6669934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66092795..66125106hg38UCSC Ensembl
Innerchr12:66092795..66125106hg38UCSC Ensembl
Outerchr12:66092295..66125606hg38UCSC Ensembl
chr12:66486575..66518886hg19UCSC Ensembl
Innerchr12:66486575..66518886hg19UCSC Ensembl
Outerchr12:66486075..66519386hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3832312
hg1932312
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14515236
SamplesHG03888
Known GenesLLPH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629795
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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