A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13301431



Internal ID4562382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117898501..117918242hg38UCSC Ensembl
Innerchr8:117898501..117918242hg38UCSC Ensembl
Outerchr8:117898001..117918742hg38UCSC Ensembl
chr8:118910740..118930481hg19UCSC Ensembl
Innerchr8:118910740..118930481hg19UCSC Ensembl
Outerchr8:118910240..118930981hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg3819742
hg1919742
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618564
Supporting Variants
SamplesHG04062
Known GenesEXT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13301431
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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