A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788356



Internal ID18813816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:214697853..214755197hg38UCSC Ensembl
Innerchr2:215562577..215619921hg19UCSC Ensembl
Innerchr2:215270822..215328166hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3857345
hg1957345
hg1857345
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893552
Supporting Variants
Samples
Known GenesBARD1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=17
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788356
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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