A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13315982



Internal ID3317798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125096629..125100639hg38UCSC Ensembl
Innerchr8:125096629..125100639hg38UCSC Ensembl
Outerchr8:125096465..125100866hg38UCSC Ensembl
chr8:126108871..126112881hg19UCSC Ensembl
Innerchr8:126108871..126112881hg19UCSC Ensembl
Outerchr8:126108707..126113108hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg384011
hg194011
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618710
Supporting Variants
SamplesHG02508
Known GenesNSMCE2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13315982
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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