A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13315987



Internal ID4592201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125200995..125212270hg38UCSC Ensembl
Innerchr8:125200997..125212268hg38UCSC Ensembl
Outerchr8:125200993..125212272hg38UCSC Ensembl
chr8:126213237..126224512hg19UCSC Ensembl
Innerchr8:126213239..126224510hg19UCSC Ensembl
Outerchr8:126213235..126224514hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3811276
hg1911276
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618712
Supporting Variants
SamplesHG04100
Known GenesNSMCE2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13315987
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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