A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984525



Internal ID12630428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:99844732..100227174hg38UCSC Ensembl
Innerchr6:100292608..100675050hg19UCSC Ensembl
Innerchr6:100399329..100781771hg18UCSC Ensembl
Innerchr6:100399329..100781771hg17UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg38382443
hg19382443
hg18382443
hg17382443
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752086
Supporting Variants
SamplesBEC_714
Known GenesMCHR2, MCHR2-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984525
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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