A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv305e214



Internal ID20121728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112367405..112377641hg38UCSC Ensembl
chr12:112805209..112815445hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3810237
hg1910237
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3630776, esv3630775
SamplesHG01092, NA21100
Known GenesHECTD4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv305e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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