A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11038178



Internal ID6798711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:70310860..70315358hg38UCSC Ensembl
Innerchr3:70310860..70315358hg38UCSC Ensembl
Outerchr3:70310763..70315426hg38UCSC Ensembl
chr3:70360011..70364509hg19UCSC Ensembl
Innerchr3:70360011..70364509hg19UCSC Ensembl
Outerchr3:70359914..70364577hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg384499
hg194499
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596512
Supporting Variants
SamplesNA20889
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11038178
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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