A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14483127



Internal ID4484943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52688070..52835680hg38UCSC Ensembl
Innerchr12:52688220..52835530hg38UCSC Ensembl
Outerchr12:52687920..52835830hg38UCSC Ensembl
chr12:53081854..53229464hg19UCSC Ensembl
Innerchr12:53082004..53229314hg19UCSC Ensembl
Outerchr12:53081704..53229614hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38147611
hg19147611
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629524
Supporting Variants
SamplesHG01357
Known GenesKRT3, KRT4, KRT76, KRT77, KRT79
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14483127
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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