A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978158



Internal ID12981498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:3867170..5858340hg38UCSC Ensembl
Innerchr8:3724692..5715862hg19UCSC Ensembl
Innerchr8:3712100..5703270hg18UCSC Ensembl
Innerchr8:3712100..5703270hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg381991171
hg191991171
hg181991171
hg171991171
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34327
Supporting Variants
SamplesNA18972
Known GenesCSMD1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978158
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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