A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986250



Internal ID12628754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91892814..92114118hg38UCSC Ensembl
Innerchr1:92358371..92579675hg19UCSC Ensembl
Innerchr1:92130959..92352263hg18UCSC Ensembl
Innerchr1:92070392..92291696hg17UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38221305
hg19221305
hg18221305
hg17221305
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986250
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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