A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751923



Internal ID12985475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:12996886..13964466hg38UCSC Ensembl
Innerchr21:14369207..15336787hg19UCSC Ensembl
Innerchr21:13291078..14258658hg18UCSC Ensembl
Innerchr21:13291078..14258658hg17UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38967581
hg19967581
hg18967581
hg17967581
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989588, essv6982195
SamplesBEC_401
Known GenesANKRD20A11P, ANKRD30BP2, C21orf15, LOC100288966, MIR3156-3, MIR8069, POTED
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751923
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer