A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982893



Internal ID12629026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:148393789..149236225hg38UCSC Ensembl
Innerchr2:149151358..150092739hg19UCSC Ensembl
Innerchr2:148867828..149800985hg18UCSC Ensembl
Innerchr2:148985090..149918247hg17UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38842437
hg19941382
hg18933158
hg17933158
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, MBD5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982893
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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