A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987610



Internal ID12630440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:99855403..100188403hg38UCSC Ensembl
Innerchr6:100303279..100636279hg19UCSC Ensembl
Innerchr6:100410000..100743000hg18UCSC Ensembl
Innerchr6:100410000..100743000hg17UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg38333001
hg19333001
hg18333001
hg17333001
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)essv6987610
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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