A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988487



Internal ID12627684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:4119388..4218605hg38UCSC Ensembl
Innerchr16:4169389..4268606hg19UCSC Ensembl
Innerchr16:4109390..4208607hg18UCSC Ensembl
Innerchr16:4109390..4208607hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3899218
hg1999218
hg1899218
hg1799218
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751608
Supporting Variants
SamplesBEC_516
Known GenesSRL
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988487
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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