A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13338821



Internal ID595962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:134990405..134996897hg38UCSC Ensembl
Innerchr8:134990405..134996897hg38UCSC Ensembl
Outerchr8:134990231..134997067hg38UCSC Ensembl
chr8:136002648..136009140hg19UCSC Ensembl
Innerchr8:136002648..136009140hg19UCSC Ensembl
Outerchr8:136002474..136009310hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg386493
hg196493
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618914
Supporting Variants
SamplesHG00260
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13338821
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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