A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13262717



Internal ID5432726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:95568402..95589688hg38UCSC Ensembl
Innerchr8:95568402..95589688hg38UCSC Ensembl
Outerchr8:95567902..95590188hg38UCSC Ensembl
chr8:96580630..96601916hg19UCSC Ensembl
Innerchr8:96580630..96601916hg19UCSC Ensembl
Outerchr8:96580130..96602416hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3821287
hg1921287
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618104
Supporting Variants
SamplesNA18957
Known GenesLOC100616530
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13262717
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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