A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982316



Internal ID12973538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:124021518..124162691hg38UCSC Ensembl
Innerchr6:124342663..124483836hg19UCSC Ensembl
Innerchr6:124384362..124525535hg18UCSC Ensembl
Innerchr6:124384362..124525535hg17UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38141174
hg19141174
hg18141174
hg17141174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752089
Supporting Variants
SamplesBEC_415
Known GenesNKAIN2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982316
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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