A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13284525



Internal ID2886557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109263003..109291343hg38UCSC Ensembl
Innerchr8:109263003..109291343hg38UCSC Ensembl
Outerchr8:109262503..109291843hg38UCSC Ensembl
chr8:110275232..110303572hg19UCSC Ensembl
Innerchr8:110275232..110303572hg19UCSC Ensembl
Outerchr8:110274732..110304072hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg3828341
hg1928341
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618372
Supporting Variants
SamplesHG02558
Known GenesNUDCD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13284525
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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