A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1030e214



Internal ID22756924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:139793539..139817398hg38UCSC Ensembl
chr4:140714693..140738552hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg3823860
hg1923860
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3602443, esv3602442
SamplesNA19917, HG03078, HG03914
Known GenesMAML3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1030e214
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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