A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617157



Internal ID7004043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:49960854..50052371hg38UCSC Ensembl
Innerchr8:49960875..50052351hg38UCSC Ensembl
Outerchr8:49960834..50052392hg38UCSC Ensembl
chr8:50873414..50964931hg19UCSC Ensembl
Innerchr8:50873435..50964911hg19UCSC Ensembl
Outerchr8:50873394..50964952hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3891518
hg1991518
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13196033
SamplesNA19093
Known GenesSNTG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617157
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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