A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982895



Internal ID12629023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:148594784..149215347hg38UCSC Ensembl
Innerchr2:149352353..150071861hg19UCSC Ensembl
Innerchr2:149068823..149780107hg18UCSC Ensembl
Innerchr2:149186085..149897369hg17UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38620564
hg19719509
hg18711285
hg17711285
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751831
Supporting Variants
SamplesBEC_608
Known GenesEPC2, KIF5C, LYPD6B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982895
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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