A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618255



Internal ID7005137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103517703..103539546hg38UCSC Ensembl
Innerchr8:103517703..103539546hg38UCSC Ensembl
Outerchr8:103517203..103540046hg38UCSC Ensembl
chr8:104529931..104551774hg19UCSC Ensembl
Innerchr8:104529931..104551774hg19UCSC Ensembl
Outerchr8:104529431..104552274hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3821844
hg1921844
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13271495
SamplesNA18915
Known GenesRIMS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618255
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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