A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618874



Internal ID7005756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132544311..132573901hg38UCSC Ensembl
Innerchr8:132544311..132573901hg38UCSC Ensembl
Outerchr8:132543811..132574401hg38UCSC Ensembl
chr8:133556558..133586149hg19UCSC Ensembl
Innerchr8:133556558..133586149hg19UCSC Ensembl
Outerchr8:133556058..133586649hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3829591
hg1929592
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13335118
SamplesHG01612
Known GenesHPYR1, LRRC6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618874
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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