A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11185934



Internal ID3134914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151593778..151653600hg38UCSC Ensembl
chr3:151311566..151371388hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3859823
hg1959823
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598178
Supporting Variants
SamplesHG02763
Known GenesMIR548H2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11185934
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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