A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11048848



Internal ID1050664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:77225621..77227784hg38UCSC Ensembl
Innerchr3:77225646..77227760hg38UCSC Ensembl
Outerchr3:77225597..77227809hg38UCSC Ensembl
chr3:77274772..77276935hg19UCSC Ensembl
Innerchr3:77274797..77276911hg19UCSC Ensembl
Outerchr3:77274748..77276960hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg382164
hg192164
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596657
Supporting Variants
SamplesHG03814
Known GenesROBO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11048848
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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