A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv154e55



Internal ID22761104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110076984..110223048hg38UCSC Ensembl
chr2:110834561..110980625hg19UCSC Ensembl
chr2:110191850..110337914hg18UCSC Ensembl
chr2:110191936..110338000hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38146065
hg19146065
hg18146065
hg17146065
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751814, esv34708
SamplesNA18558, BEC_636
Known GenesLINC00116, MALL, MIR4436B1, MIR4436B2, NPHP1
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)dgv154e55
Frequency
Sample Size771
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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