A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751062



Internal ID12637928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31086666..31257350hg38UCSC Ensembl
Innerchr12:31239600..31410284hg19UCSC Ensembl
Innerchr12:31130867..31301551hg18UCSC Ensembl
Innerchr12:31130867..31301551hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38170685
hg19170685
hg18170685
hg17170685
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv62e55
Supporting Variantsessv6982050, essv6982051, essv6986069, essv6986070, essv6982049
SamplesBEC_516
Known GenesDDX11
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)esv2751062
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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