A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11287459



Internal ID704509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194990085..194993601hg38UCSC Ensembl
Innerchr3:194990085..194993601hg38UCSC Ensembl
Outerchr3:194989767..194993848hg38UCSC Ensembl
chr3:194710814..194714330hg19UCSC Ensembl
Innerchr3:194710814..194714330hg19UCSC Ensembl
Outerchr3:194710496..194714577hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg383517
hg193517
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599227
Supporting Variants
SamplesHG00330
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11287459
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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