A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13205991



Internal ID1619250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:57729375..57733651hg38UCSC Ensembl
chr8:58641934..58646210hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg384277
hg194277
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617324
Supporting Variants
SamplesHG01500
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13205991
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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