A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979300



Internal ID12633275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42874755..43001832hg38UCSC Ensembl
Innerchr19:43378907..43505984hg19UCSC Ensembl
Innerchr19:48070747..48197824hg18UCSC Ensembl
Innerchr19:48070747..48197824hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38127078
hg19127078
hg18127078
hg17127078
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34210
Supporting Variants
SamplesNA18524
Known GenesPSG1, PSG6, PSG7
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979300
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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