A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981468



Internal ID12625468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:137996460..138118460hg38UCSC Ensembl
Innerchr3:137715302..137837302hg19UCSC Ensembl
Innerchr3:139197992..139319992hg18UCSC Ensembl
Innerchr3:139198000..139320000hg17UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg38122001
hg19122001
hg18122001
hg17122001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751978
Supporting Variants
SamplesBEC_236
Known GenesCLDN18, DZIP1L
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981468
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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