A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13099231



Internal ID2287040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:9844013..9882200hg38UCSC Ensembl
Innerchr8:9844513..9881700hg38UCSC Ensembl
Outerchr8:9843013..9883200hg38UCSC Ensembl
chr8:9701523..9739710hg19UCSC Ensembl
Innerchr8:9702023..9739210hg19UCSC Ensembl
Outerchr8:9700523..9740710hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3838188
hg1938188
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616202
Supporting Variants
SamplesHG02047
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13099231
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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