A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14479979



Internal ID6367184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50946886..50973141hg38UCSC Ensembl
Innerchr12:50946886..50973141hg38UCSC Ensembl
Outerchr12:50946386..50973641hg38UCSC Ensembl
chr12:51340669..51366924hg19UCSC Ensembl
Innerchr12:51340669..51366924hg19UCSC Ensembl
Outerchr12:51340169..51367424hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3826256
hg1926256
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629495
Supporting Variants
SamplesNA20298
Known GenesHIGD1C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14479979
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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