A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13154953



Internal ID3156769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30677571..30678955hg38UCSC Ensembl
Innerchr8:30677633..30678893hg38UCSC Ensembl
Outerchr8:30677509..30679017hg38UCSC Ensembl
chr8:30535088..30536472hg19UCSC Ensembl
Innerchr8:30535150..30536410hg19UCSC Ensembl
Outerchr8:30535026..30536534hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381385
hg191385
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616792
Supporting Variants
SamplesHG00500
Known GenesGSR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13154953
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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