A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13312367



Internal ID4191243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124639182..124681541hg38UCSC Ensembl
Innerchr8:124639332..124681391hg38UCSC Ensembl
Outerchr8:124639032..124681691hg38UCSC Ensembl
chr8:125651423..125693782hg19UCSC Ensembl
Innerchr8:125651573..125693632hg19UCSC Ensembl
Outerchr8:125651273..125693932hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3842360
hg1942360
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618697
Supporting Variants
SamplesHG03781
Known GenesMTSS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13312367
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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