A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11185941



Internal ID2423384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151677792..151701339hg38UCSC Ensembl
chr3:151395580..151419127hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3823548
hg1923548
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598183
Supporting Variants
SamplesHG02141
Known GenesMIR548H2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11185941
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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