A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752092



Internal ID12638958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:161849949..161893522hg38UCSC Ensembl
Innerchr6:162270981..162314554hg19UCSC Ensembl
Innerchr6:162190971..162234544hg18UCSC Ensembl
Innerchr6:162241392..162284965hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3843574
hg1943574
hg1843574
hg1743574
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987849, essv6980792
SamplesBEC_158
Known GenesPARK2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752092
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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