A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988673



Internal ID12629658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:164808127..164881379hg38UCSC Ensembl
Innerchr2:165664637..165737889hg19UCSC Ensembl
Innerchr2:165372883..165446135hg18UCSC Ensembl
Innerchr2:165490144..165563396hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3873253
hg1973253
hg1873253
hg1773253
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751832
Supporting Variants
SamplesBEC_658
Known GenesCOBLL1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988673
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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