A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990033



Internal ID12636930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42833953..43227007hg38UCSC Ensembl
Innerchr19:43338105..43731159hg19UCSC Ensembl
Innerchr19:48029945..48422999hg18UCSC Ensembl
Innerchr19:48029945..48422999hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38393055
hg19393055
hg18393055
hg17393055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751789
Supporting Variants
SamplesSPC_186
Known GenesLOC284344, PSG1, PSG10P, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990033
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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