A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985097



Internal ID12631370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42867710..43227007hg38UCSC Ensembl
Innerchr19:43371862..43731159hg19UCSC Ensembl
Innerchr19:48063702..48422999hg18UCSC Ensembl
Innerchr19:48063702..48422999hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38359298
hg19359298
hg18359298
hg17359298
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751793
Supporting Variants
SamplesBEC_98
Known GenesLOC284344, PSG1, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985097
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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