A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985793



Internal ID12984045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189629950..189854489hg38UCSC Ensembl
Innerchr4:190551104..190775644hg19UCSC Ensembl
Innerchr4:190788098..191012638hg18UCSC Ensembl
Innerchr4:190926253..191150793hg17UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38224540
hg19224541
hg18224541
hg17224541
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752042
Supporting Variants
SamplesSPC_50
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985793
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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