A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984526



Internal ID12630427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:99855390..100188743hg38UCSC Ensembl
Innerchr6:100303266..100636619hg19UCSC Ensembl
Innerchr6:100409987..100743340hg18UCSC Ensembl
Innerchr6:100409987..100743340hg17UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg38333354
hg19333354
hg18333354
hg17333354
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)essv6984526
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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