A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990398



Internal ID12633887
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 Variantsesv34541
Supporting Variants
SamplesNA18605
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)essv6990398
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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