A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986903



Internal ID12633777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28979520..30284474hg38UCSC Ensembl
Innerchr2:29202386..30507340hg19UCSC Ensembl
Innerchr2:29055890..30360844hg18UCSC Ensembl
Innerchr2:29114037..30418991hg17UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg381304955
hg191304955
hg181304955
hg171304955
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)essv6986903
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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