A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13274198



Internal ID2305541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:105665817..105672106hg38UCSC Ensembl
Innerchr8:105665860..105672064hg38UCSC Ensembl
Outerchr8:105665775..105672149hg38UCSC Ensembl
chr8:106678045..106684334hg19UCSC Ensembl
Innerchr8:106678088..106684292hg19UCSC Ensembl
Outerchr8:106678003..106684377hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg386290
hg196290
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618290
Supporting Variants
SamplesHG02054
Known GenesZFPM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13274198
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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