A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11031512



Internal ID3132268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:68267017..68271091hg38UCSC Ensembl
Innerchr3:68267017..68271091hg38UCSC Ensembl
Outerchr3:68266778..68271312hg38UCSC Ensembl
chr3:68316167..68320241hg19UCSC Ensembl
Innerchr3:68316167..68320241hg19UCSC Ensembl
Outerchr3:68315928..68320462hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg384075
hg194075
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596479
Supporting Variants
SamplesHG02760
Known GenesFAM19A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11031512
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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