A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893552



Internal ID18837686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:214697853..214755197hg38UCSC Ensembl
Outerchr2:214697853..214755197hg38UCSC Ensembl
Innerchr2:215562577..215619921hg19UCSC Ensembl
Outerchr2:215562577..215619921hg19UCSC Ensembl
Innerchr2:215270822..215328166hg18UCSC Ensembl
Outerchr2:215270822..215328166hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3857345
hg1957345
hg1857345
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788356
Samples
Known GenesBARD1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893552
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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