A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618459



Internal ID7005341
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13288563, essv13288562
SamplesHG02661, HG02462
Known GenesCSMD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618459
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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