A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750829



Internal ID12637695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:232459269..233243473hg38UCSC Ensembl
Innerchr1:232595015..233379219hg19UCSC Ensembl
Innerchr1:230661638..231445842hg18UCSC Ensembl
Innerchr1:228901750..229685954hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38784205
hg19784205
hg18784205
hg17784205
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988905, essv6985213, essv6985215, essv6985212, essv6985214
SamplesSPC_127
Known GenesMAP10, NTPCR, PCNXL2, SIPA1L2
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)esv2750829
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