A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv116e55



Internal ID22761066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21522983..21889986hg38UCSC Ensembl
chr16:21534304..21901307hg19UCSC Ensembl
chr16:21441805..21808808hg18UCSC Ensembl
chr16:21441805..21808808hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38367004
hg19367004
hg18367004
hg17367004
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751553, esv2751554
SamplesBEC_792, BEC_541
Known GenesIGSF6, LOC100190986, METTL9, OTOA, RRN3P1
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)dgv116e55
Frequency
Sample Size771
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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