A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980804



Internal ID12625359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:79765794..81366594hg38UCSC Ensembl
Innerchr1:80231479..81832279hg19UCSC Ensembl
Innerchr1:80004067..81604867hg18UCSC Ensembl
Innerchr1:79943500..81544300hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381600801
hg191600801
hg181600801
hg171600801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750840
Supporting Variants
SamplesBEC_175
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980804
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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