A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983949



Internal ID12977447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:21283020..21521301hg38UCSC Ensembl
Innerchr19:21465822..21704103hg19UCSC Ensembl
Innerchr19:21257662..21495943hg18UCSC Ensembl
Innerchr19:21257662..21495943hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38238282
hg19238282
hg18238282
hg17238282
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751783
Supporting Variants
SamplesBEC_737
Known GenesLINC00664, ZNF429, ZNF493, ZNF708, ZNF738
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983949
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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