A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980512



Internal ID12635864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:152489978..152827978hg38UCSC Ensembl
Innerchr2:153346492..153684492hg19UCSC Ensembl
Innerchr2:153054738..153392738hg18UCSC Ensembl
Innerchr2:153172000..153510000hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38338001
hg19338001
hg18338001
hg17338001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34659
Supporting Variants
SamplesNA19203
Known GenesARL6IP6, FMNL2, PRPF40A
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980512
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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