A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751553



Internal ID12638419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21522983..21889986hg38UCSC Ensembl
Innerchr16:21534304..21901307hg19UCSC Ensembl
Innerchr16:21441805..21808808hg18UCSC Ensembl
Innerchr16:21441805..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 Variantsdgv116e55
Supporting Variantsessv6984158, essv6984159, essv6989920
SamplesBEC_792
Known GenesIGSF6, LOC100190986, METTL9, OTOA, RRN3P1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751553
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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