A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6301229



Internal ID9278632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67439452..67440292hg38UCSC Ensembl
Outerchr8:67439413..67440349hg38UCSC Ensembl
Innerchr8:68351687..68352527hg19UCSC Ensembl
Outerchr8:68351648..68352584hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38937
hg19937
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664813
Supporting Variants
SamplesNA18964
Known GenesCPA6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6301229
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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