A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988931



Internal ID12983881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:71200022..71219017hg38UCSC Ensembl
Innerchr18:68867258..68886253hg19UCSC Ensembl
Innerchr18:67018238..67037233hg18UCSC Ensembl
Innerchr18:67018238..67037233hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3818996
hg1918996
hg1818996
hg1718996
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751778
Supporting Variants
SamplesSPC_31
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988931
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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