A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984897



Internal ID12637005
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 StatusS
Merged Variantsesv2750843
Supporting Variants
SamplesSPC_192
Known GenesH6PD, SPSB1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984897
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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