A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595349



Internal ID6982667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:13577108..13677560hg38UCSC Ensembl
Innerchr3:13577258..13677410hg38UCSC Ensembl
Outerchr3:13576958..13677710hg38UCSC Ensembl
chr3:13618608..13719059hg19UCSC Ensembl
Innerchr3:13618758..13718909hg19UCSC Ensembl
Outerchr3:13618458..13719209hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38100453
hg19100452
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv870e214
Supporting Variantsessv10931421, essv10931422
SamplesHG03490, HG03989
Known GenesFBLN2, LINC00620
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595349
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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