A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983264



Internal ID12628400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32418369..33091056hg38UCSC Ensembl
Innerchr2:32643437..33316123hg19UCSC Ensembl
Innerchr2:32496941..33169627hg18UCSC Ensembl
Innerchr2:32555088..33227774hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38672688
hg19672687
hg18672687
hg17672687
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751888
Supporting Variants
SamplesBEC_560
Known GenesBIRC6, LINC00486, LOC100271832, LTBP1, MIR4765, MIR558, TTC27
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983264
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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