A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989625



Internal ID12627072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42736227..43207440hg38UCSC Ensembl
Innerchr19:43240379..43711592hg19UCSC Ensembl
Innerchr19:47932219..48403432hg18UCSC Ensembl
Innerchr19:47932219..48403432hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38471214
hg19471214
hg18471214
hg17471214
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751788
Supporting Variants
SamplesBEC_446
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989625
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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