A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984735



Internal ID12983435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:18135375..18160569hg38UCSC Ensembl
Innerchr2:18316641..18341835hg19UCSC Ensembl
Innerchr2:18180122..18205316hg18UCSC Ensembl
Innerchr2:18238269..18263463hg17UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3825195
hg1925195
hg1825195
hg1725195
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751834
Supporting Variants
SamplesSPC_171
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984735
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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