A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11030450



Internal ID1075378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:66464657..66479422hg38UCSC Ensembl
Innerchr3:66465157..66478922hg38UCSC Ensembl
Outerchr3:66463657..66480422hg38UCSC Ensembl
chr3:66515081..66529846hg19UCSC Ensembl
Innerchr3:66515581..66529346hg19UCSC Ensembl
Outerchr3:66514081..66530846hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3814766
hg1914766
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596438
Supporting Variants
SamplesHG00699
Known GenesLRIG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11030450
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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