A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618752



Internal ID7005634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:126547280..126551412hg38UCSC Ensembl
Innerchr8:126547301..126551391hg38UCSC Ensembl
Outerchr8:126547259..126551433hg38UCSC Ensembl
chr8:127559525..127563657hg19UCSC Ensembl
Innerchr8:127559546..127563636hg19UCSC Ensembl
Outerchr8:127559504..127563678hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg384133
hg194133
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13317981, essv13317980, essv13317982
SamplesHG03873, NA20887, HG03998
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618752
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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