A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2e55



Internal ID20126481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9255788..9344634hg38UCSC Ensembl
chr1:9315847..9404693hg19UCSC Ensembl
chr1:9238434..9327280hg18UCSC Ensembl
chr1:9250113..9338959hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3888847
hg1988847
hg1888847
hg1788847
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2750843, esv2750844, esv2750846
SamplesSPC_192, BEC_287, BEC_670
Known GenesH6PD, SPSB1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv2e55
Frequency
Sample Size771
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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