A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986988



Internal ID12634386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:107924531..108552052hg38UCSC Ensembl
Innerchr2:108540987..109168508hg19UCSC Ensembl
Innerchr2:107907419..108534940hg18UCSC Ensembl
Innerchr2:107999505..108627026hg17UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38627522
hg19627522
hg18627522
hg17627522
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34618
Supporting Variants
SamplesNA18872
Known GenesGCC2, LIMS1, SLC5A7, SULT1C2, SULT1C2P1, SULT1C3, SULT1C4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986988
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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