A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985600



Internal ID12625604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42867708..43120208hg38UCSC Ensembl
Innerchr19:43371860..43624360hg19UCSC Ensembl
Innerchr19:48063700..48316200hg18UCSC Ensembl
Innerchr19:48063700..48316200hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38252501
hg19252501
hg18252501
hg17252501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751786
Supporting Variants
SamplesBEC_298
Known GenesPSG1, PSG11, PSG2, PSG6, PSG7
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985600
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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