A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1339e214



Internal ID20122762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152367236..152571064hg38UCSC Ensembl
chr7:152064321..152268149hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38203829
hg19203829
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3615504, esv3615503
SamplesHG01679, HG03882
Known GenesFABP5P3, KMT2C, LINC01003
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1339e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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