A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13204439



Internal ID3206255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56248755..56255953hg38UCSC Ensembl
chr8:57161314..57168512hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg387199
hg197199
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617296
Supporting Variants
SamplesNA18516
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13204439
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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