A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34611



Internal ID12643961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:6741971..6838291hg38UCSC Ensembl
Innerchr18:6741970..6838290hg19UCSC Ensembl
Innerchr18:6731970..6828290hg18UCSC Ensembl
Innerchr18:6731970..6828290hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3896321
hg1996321
hg1896321
hg1796321
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986689, essv6978687, essv6978686
SamplesNA12145
Known GenesARHGAP28
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)esv34611
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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