A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14390587



Internal ID4086350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12915778..12928010hg38UCSC Ensembl
chr12:13068712..13080944hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3812233
hg1912233
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628627
Supporting Variants
SamplesHG03714
Known GenesMIR614
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14390587
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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