A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597157



Internal ID6984471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99772480..99776574hg38UCSC Ensembl
Innerchr3:99772490..99776565hg38UCSC Ensembl
Outerchr3:99772471..99776584hg38UCSC Ensembl
chr3:99491324..99495418hg19UCSC Ensembl
Innerchr3:99491334..99495409hg19UCSC Ensembl
Outerchr3:99491315..99495428hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg384095
hg194095
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11082828
SamplesNA11920
Known GenesCOL8A1, MIR548G
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597157
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer