A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988864



Internal ID12636991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162226557..162455557hg38UCSC Ensembl
Innerchr6:162647589..162876589hg19UCSC Ensembl
Innerchr6:162567579..162796579hg18UCSC Ensembl
Innerchr6:162618000..162847000hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38229001
hg19229001
hg18229001
hg17229001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752096
Supporting Variants
SamplesSPC_19
Known GenesPARK2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988864
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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