A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988645



Internal ID12628406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32550882..33091082hg38UCSC Ensembl
Innerchr2:32775949..33316149hg19UCSC Ensembl
Innerchr2:32629453..33169653hg18UCSC Ensembl
Innerchr2:32687600..33227800hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38540201
hg19540201
hg18540201
hg17540201
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, TTC27
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988645
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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