A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989506



Internal ID12984152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:5164024..5424600hg38UCSC Ensembl
Innerchr4:5165751..5426327hg19UCSC Ensembl
Innerchr4:5216652..5477228hg18UCSC Ensembl
Innerchr4:5283823..5544399hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38260577
hg19260577
hg18260577
hg17260577
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752049
Supporting Variants
SamplesSPC_7
Known GenesSTK32B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989506
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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