A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13284524



Internal ID2886554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109258702..109316327hg38UCSC Ensembl
chr8:110270931..110328556hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg3857626
hg1957626
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618371
Supporting Variants
SamplesHG02558
Known GenesNUDCD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13284524
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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