A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv124e55



Internal ID20126603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45464290..45589540hg38UCSC Ensembl
chr17:43541656..43666906hg19UCSC Ensembl
chr17:40897439..41022689hg18UCSC Ensembl
chr17:40897439..41022689hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38125251
hg19125251
hg18125251
hg17125251
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv35055, esv34924
SamplesNA10857, NA12802
Known GenesLRRC37A4P, MIR4315-1, MIR4315-2, PLEKHM1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv124e55
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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