A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13213149



Internal ID2725185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:63287193..63288608hg38UCSC Ensembl
Innerchr8:63287194..63288607hg38UCSC Ensembl
Outerchr8:63287192..63288609hg38UCSC Ensembl
chr8:64199751..64201166hg19UCSC Ensembl
Innerchr8:64199752..64201165hg19UCSC Ensembl
Outerchr8:64199750..64201167hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg381416
hg191416
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617428
Supporting Variants
SamplesHG02398
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13213149
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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