A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11031506



Internal ID1033322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:68020188..68024736hg38UCSC Ensembl
Innerchr3:68020188..68024736hg38UCSC Ensembl
Outerchr3:68019984..68024959hg38UCSC Ensembl
chr3:68069332..68073881hg19UCSC Ensembl
Innerchr3:68069332..68073881hg19UCSC Ensembl
Outerchr3:68069128..68074110hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg384549
hg194550
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596475
Supporting Variants
SamplesHG01171
Known GenesFAM19A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11031506
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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