A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35011



Internal ID12644361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:239744120..240135659hg38UCSC Ensembl
Innerchr1:239907420..240298959hg19UCSC Ensembl
Innerchr1:237974043..238365582hg18UCSC Ensembl
Innerchr1:236233461..236625000hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38391540
hg19391540
hg18391540
hg17391540
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986880, essv6979530, essv6979531, essv6990377, essv6979532
SamplesNA18566
Known GenesCHRM3, CHRM3-AS1, FMN2, RPS7P5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv35011
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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