A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14480031



Internal ID4481847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51399705..51409756hg38UCSC Ensembl
chr12:51793489..51803540hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3810052
hg1910052
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629502
Supporting Variants
SamplesHG02286
Known GenesSLC4A8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14480031
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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