A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13288563



Internal ID3024819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:112875486..112904292hg38UCSC Ensembl
Innerchr8:112875986..112903792hg38UCSC Ensembl
Outerchr8:112874486..112905292hg38UCSC Ensembl
chr8:113887715..113916521hg19UCSC Ensembl
Innerchr8:113888215..113916021hg19UCSC Ensembl
Outerchr8:113886715..113917521hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3828807
hg1928807
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618459
Supporting Variants
SamplesHG02661
Known GenesCSMD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13288563
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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