A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983087



Internal ID12628116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21528015..21889986hg38UCSC Ensembl
Innerchr16:21539336..21901307hg19UCSC Ensembl
Innerchr16:21446837..21808808hg18UCSC Ensembl
Innerchr16:21446837..21808808hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38361972
hg19361972
hg18361972
hg17361972
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751554
Supporting Variants
SamplesBEC_541
Known GenesIGSF6, LOC100190986, METTL9, OTOA, RRN3P1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983087
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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