A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990056



Internal ID12637150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43055178..43366735hg38UCSC Ensembl
Innerchr19:43559330..43870887hg19UCSC Ensembl
Innerchr19:48251170..48562727hg18UCSC Ensembl
Innerchr19:48251170..48562727hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38311558
hg19311558
hg18311558
hg17311558
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751795
Supporting Variants
SamplesSPC_29
Known GenesCD177, LOC284344, PRG1, PSG2, PSG4, PSG5, PSG9
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990056
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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