A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989401



Internal ID12977436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:21302858..21523158hg38UCSC Ensembl
Innerchr19:21485660..21705960hg19UCSC Ensembl
Innerchr19:21277500..21497800hg18UCSC Ensembl
Innerchr19:21277500..21497800hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38220301
hg19220301
hg18220301
hg17220301
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989401
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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