A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14485810



Internal ID4487626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55459386..55474158hg38UCSC Ensembl
Innerchr12:55459386..55474158hg38UCSC Ensembl
Outerchr12:55458886..55474658hg38UCSC Ensembl
chr12:55853170..55867942hg19UCSC Ensembl
Innerchr12:55853170..55867942hg19UCSC Ensembl
Outerchr12:55852670..55868442hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3814773
hg1914773
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629576
Supporting Variants
SamplesNA19625
Known GenesOR6C70
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14485810
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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