A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983043



Internal ID12628049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100580485..100709093hg38UCSC Ensembl
Innerchr3:100299329..100427937hg19UCSC Ensembl
Innerchr3:101782019..101910627hg18UCSC Ensembl
Innerchr3:101782019..101910627hg17UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38128609
hg19128609
hg18128609
hg17128609
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751966
Supporting Variants
SamplesBEC_536
Known GenesGPR128
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983043
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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