A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989730



Internal ID12628112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21608978..21713578hg38UCSC Ensembl
Innerchr16:21620299..21724899hg19UCSC Ensembl
Innerchr16:21527800..21632400hg18UCSC Ensembl
Innerchr16:21527800..21632400hg17UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38104601
hg19104601
hg18104601
hg17104601
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751554
Supporting Variants
SamplesBEC_541
Known GenesIGSF6, METTL9, OTOA
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989730
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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