A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11633211



Internal ID3452435
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602443
Supporting Variants
SamplesHG03078
Known GenesMAML3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11633211
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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