A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13274212



Internal ID1438980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:105784307..105785084hg38UCSC Ensembl
Innerchr8:105784307..105785084hg38UCSC Ensembl
Outerchr8:105784307..105785084hg38UCSC Ensembl
chr8:106796535..106797312hg19UCSC Ensembl
Innerchr8:106796535..106797312hg19UCSC Ensembl
Outerchr8:106796535..106797312hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38778
hg19778
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618291
Supporting Variants
SamplesHG01325
Known GenesZFPM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13274212
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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