A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989588



Internal ID12626659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13342302..13808921hg38UCSC Ensembl
Innerchr21:14714623..15181242hg19UCSC Ensembl
Innerchr21:13636494..14103113hg18UCSC Ensembl
Innerchr21:13636494..14103113hg17UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38466620
hg19466620
hg18466620
hg17466620
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751923
Supporting Variants
SamplesBEC_401
Known GenesLOC100288966, MIR3156-3, MIR8069, POTED
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989588
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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