A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14485713



Internal ID4487529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55310583..55331520hg38UCSC Ensembl
Innerchr12:55310642..55331462hg38UCSC Ensembl
Outerchr12:55310525..55331579hg38UCSC Ensembl
chr12:55704367..55725304hg19UCSC Ensembl
Innerchr12:55704426..55725246hg19UCSC Ensembl
Outerchr12:55704309..55725363hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3820938
hg1920938
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629571
Supporting Variants
SamplesHG01685
Known GenesOR6C1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14485713
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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