A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618697



Internal ID7005579
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1415e214
Supporting Variantsessv13312367, essv13312368
SamplesNA19917, HG03781
Known GenesMTSS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618697
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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