A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13093646



Internal ID860797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:8613528..8616662hg38UCSC Ensembl
Innerchr8:8613549..8616642hg38UCSC Ensembl
Outerchr8:8613508..8616683hg38UCSC Ensembl
chr8:8471038..8474172hg19UCSC Ensembl
Innerchr8:8471059..8474152hg19UCSC Ensembl
Outerchr8:8471018..8474193hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383135
hg193135
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616141
Supporting Variants
SamplesHG00451
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13093646
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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