A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989720



Internal ID12974712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:12546642..12572042hg38UCSC Ensembl
Innerchr16:12640499..12665899hg19UCSC Ensembl
Innerchr16:12548000..12573400hg18UCSC Ensembl
Innerchr16:12548000..12573400hg17UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3825401
hg1925401
hg1825401
hg1725401
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751546
Supporting Variants
SamplesBEC_535
Known GenesSNX29
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989720
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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