A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987609



Internal ID12630441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:99844732..100185462hg38UCSC Ensembl
Innerchr6:100292608..100633338hg19UCSC Ensembl
Innerchr6:100399329..100740059hg18UCSC Ensembl
Innerchr6:100399329..100740059hg17UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg38340731
hg19340731
hg18340731
hg17340731
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987609
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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