A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13095713



Internal ID3097529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:9566660..9567481hg38UCSC Ensembl
Innerchr8:9566730..9567411hg38UCSC Ensembl
Outerchr8:9566590..9567551hg38UCSC Ensembl
chr8:9424170..9424991hg19UCSC Ensembl
Innerchr8:9424240..9424921hg19UCSC Ensembl
Outerchr8:9424100..9425061hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38822
hg19822
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616189
Supporting Variants
SamplesHG01805
Known GenesTNKS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13095713
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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