A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989369



Internal ID12976380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:12994..227201hg38UCSC Ensembl
Innerchr2:12994..227201hg19UCSC Ensembl
Innerchr2:2994..217201hg18UCSC Ensembl
Innerchr2:2994..217201hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38214208
hg19214208
hg18214208
hg17214208
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751887
Supporting Variants
SamplesBEC_661
Known GenesFAM110C, SH3YL1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989369
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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