A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv973e214



Internal ID22756867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3597836..3714025hg38UCSC Ensembl
chr4:3599563..3715752hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38116190
hg19116190
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3599435, esv3599434
SamplesNA18969, NA18983
Known GenesLOC100133461
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv973e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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