A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982715



Internal ID12628755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91891224..92083206hg38UCSC Ensembl
Innerchr1:92356781..92548763hg19UCSC Ensembl
Innerchr1:92129369..92321351hg18UCSC Ensembl
Innerchr1:92068802..92260784hg17UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38191983
hg19191983
hg18191983
hg17191983
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750842
Supporting Variants
SamplesBEC_583
Known GenesBRDT, BTBD8, EPHX4, TGFBR3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982715
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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