A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750843



Internal ID12637709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9255788..9333949hg38UCSC Ensembl
Innerchr1:9315847..9394008hg19UCSC Ensembl
Innerchr1:9238434..9316595hg18UCSC Ensembl
Innerchr1:9250113..9328274hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3878162
hg1978162
hg1878162
hg1778162
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2e55
Supporting Variantsessv6987707, essv6984897, essv6984898
SamplesSPC_192
Known GenesH6PD, SPSB1
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)esv2750843
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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