A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13260694



Internal ID3262510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94633846..94670007hg38UCSC Ensembl
chr8:95646074..95682235hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3836162
hg1936162
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618083
Supporting Variants
SamplesHG02808
Known GenesESRP1, LOC100288748
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13260694
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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