A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv310e214



Internal ID22756204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124069559..124204454hg38UCSC Ensembl
chr12:124554106..124689000hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38134896
hg19134895
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3631003, esv3631001
SamplesNA19378, NA20759, HG00266, HG02322, HG03388, HG00623, HG01357, HG01137
Known GenesZNF664-FAM101A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv310e214
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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