A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629495



Internal ID7016317
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14479979
SamplesNA20298
Known GenesHIGD1C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629495
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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