A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751997



Internal ID12985549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:26269605..26382005hg38UCSC Ensembl
Innerchr3:26311096..26423496hg19UCSC Ensembl
Innerchr3:26286100..26398500hg18UCSC Ensembl
Innerchr3:26286100..26398500hg17UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg38112401
hg19112401
hg18112401
hg17112401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984547, essv6987618
SamplesBEC_717
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751997
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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