A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13316174



Internal ID3317990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125334054..125563487hg38UCSC Ensembl
chr8:126346296..126575731hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38229434
hg19229436
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618720
Supporting Variants
SamplesHG02047
Known GenesNSMCE2, TRIB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13316174
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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