A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628627



Internal ID7015451
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14390587, essv14390588
SamplesHG03714, HG03781
Known GenesMIR614
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628627
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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