A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628232



Internal ID6668375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:352201..407377hg38UCSC Ensembl
chr12:461367..516543hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3855177
hg1955177
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14329482, essv14329483
SamplesHG02140, NA18522
Known GenesCCDC77, KDM5A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628232
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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