A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14604208



Internal ID4606024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111173976..111176181hg38UCSC Ensembl
Innerchr12:111173976..111176181hg38UCSC Ensembl
Outerchr12:111173814..111176535hg38UCSC Ensembl
chr12:111611780..111613985hg19UCSC Ensembl
Innerchr12:111611780..111613985hg19UCSC Ensembl
Outerchr12:111611618..111614339hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg382206
hg192206
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630750
Supporting Variants
SamplesHG00419
Known GenesCUX2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14604208
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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