A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10968976



Internal ID2903272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:30432742..30479419hg38UCSC Ensembl
Innerchr3:30432742..30479419hg38UCSC Ensembl
Outerchr3:30432242..30479919hg38UCSC Ensembl
chr3:30474234..30520911hg19UCSC Ensembl
Innerchr3:30474234..30520911hg19UCSC Ensembl
Outerchr3:30473734..30521411hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3846678
hg1946678
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595736
Supporting Variants
SamplesHG02573
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10968976
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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