A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618839



Internal ID7005721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130963783..130964279hg38UCSC Ensembl
Innerchr8:130963799..130964263hg38UCSC Ensembl
Outerchr8:130963767..130964295hg38UCSC Ensembl
chr8:131976029..131976525hg19UCSC Ensembl
Innerchr8:131976045..131976509hg19UCSC Ensembl
Outerchr8:131976013..131976541hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38497
hg19497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13330683, essv13330682
SamplesHG01686, HG01527
Known GenesADCY8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618839
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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