A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752097



Internal ID12638963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162288557..162406432hg38UCSC Ensembl
Innerchr6:162709589..162827464hg19UCSC Ensembl
Innerchr6:162629579..162747454hg18UCSC Ensembl
Innerchr6:162680000..162797875hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38117876
hg19117876
hg18117876
hg17117876
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984087, essv6989411, essv6984086, essv6984085, essv6989911
SamplesBEC_768
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)esv2752097
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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