A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752093



Internal ID12638959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:161900345..162288916hg38UCSC Ensembl
Innerchr6:162321377..162709948hg19UCSC Ensembl
Innerchr6:162241367..162629938hg18UCSC Ensembl
Innerchr6:162291788..162680359hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38388572
hg19388572
hg18388572
hg17388572
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982526, essv6986398, essv6983289, essv6982527, essv6988548
SamplesBEC_563
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)esv2752093
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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