A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598663



Internal ID6985799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172242550..172247408hg38UCSC Ensembl
Innerchr3:172242600..172247358hg38UCSC Ensembl
Outerchr3:172242500..172247458hg38UCSC Ensembl
chr3:171960340..171965198hg19UCSC Ensembl
Innerchr3:171960390..171965148hg19UCSC Ensembl
Outerchr3:171960290..171965248hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg384859
hg194859
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11227293
SamplesHG02722
Known GenesFNDC3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598663
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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