A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13130961



Internal ID3132777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18974801..19484110hg38UCSC Ensembl
Innerchr8:18974951..19483960hg38UCSC Ensembl
Outerchr8:18974651..19484260hg38UCSC Ensembl
chr8:18832311..19341621hg19UCSC Ensembl
Innerchr8:18832461..19341471hg19UCSC Ensembl
Outerchr8:18832161..19341771hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38509310
hg19509311
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616532
Supporting Variants
SamplesHG00116
Known GenesCSGALNACT1, LOC100128993, PSD3, SH2D4A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13130961
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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