A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981877



Internal ID12627383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:37462712..37671411hg38UCSC Ensembl
Innerchr6:37430488..37639187hg19UCSC Ensembl
Innerchr6:37538466..37747165hg18UCSC Ensembl
Innerchr6:37538466..37747165hg17UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38208700
hg19208700
hg18208700
hg17208700
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752124
Supporting Variants
SamplesBEC_497
Known GenesCCDC167, CMTR1, MDGA1, MIR4462
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981877
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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