A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983491



Internal ID12976388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:12994..249092hg38UCSC Ensembl
Innerchr2:12994..249092hg19UCSC Ensembl
Innerchr2:2994..239092hg18UCSC Ensembl
Innerchr2:2994..239092hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38236099
hg19236099
hg18236099
hg17236099
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)essv6983491
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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