A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752086



Internal ID12638952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:99809403..100227174hg38UCSC Ensembl
Innerchr6:100257279..100675050hg19UCSC Ensembl
Innerchr6:100364000..100781771hg18UCSC Ensembl
Innerchr6:100364000..100781771hg17UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg38417772
hg19417772
hg18417772
hg17417772
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987609, essv6984524, essv6984526, essv6987610, essv6984525
SamplesBEC_714
Known GenesMCHR2, MCHR2-AS1
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)esv2752086
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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