A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13271432



Internal ID2900318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103119847..103123352hg38UCSC Ensembl
chr8:104132075..104135580hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg383506
hg193506
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618247
Supporting Variants
SamplesHG02571
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13271432
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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