A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602443



Internal ID6989477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:139793653..139816961hg38UCSC Ensembl
chr4:140714807..140738115hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg3823309
hg1923309
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1030e214
Supporting Variantsessv11633212, essv11633211
SamplesHG03078, HG03914
Known GenesMAML3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602443
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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