A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11048843



Internal ID1050659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:77128452..77132285hg38UCSC Ensembl
chr3:77177603..77181436hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg383834
hg193834
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596656
Supporting Variants
SamplesHG02104
Known GenesROBO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11048843
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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