A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982212



Internal ID12626689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42828708..43133008hg38UCSC Ensembl
Innerchr19:43332860..43637160hg19UCSC Ensembl
Innerchr19:48024700..48329000hg18UCSC Ensembl
Innerchr19:48024700..48329000hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38304301
hg19304301
hg18304301
hg17304301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751790
Supporting Variants
SamplesBEC_402
Known GenesPSG1, PSG10P, PSG11, PSG2, PSG6, PSG7
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982212
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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