A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11185935



Internal ID3134900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151593790..151695166hg38UCSC Ensembl
chr3:151311578..151412954hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38101377
hg19101377
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598179
Supporting Variants
SamplesHG02763
Known GenesMIR548H2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11185935
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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