A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990385



Internal ID12633774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28979483..30284483hg38UCSC Ensembl
Innerchr2:29202349..30507349hg19UCSC Ensembl
Innerchr2:29055853..30360853hg18UCSC Ensembl
Innerchr2:29114000..30419000hg17UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg381305001
hg191305001
hg181305001
hg171305001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34904
Supporting Variants
SamplesNA18579
Known GenesALK, C2orf71, CLIP4, FAM179A, LBH, YPEL5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990385
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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