A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13330683



Internal ID1815925
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618839
Supporting Variants
SamplesHG01686
Known GenesADCY8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13330683
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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