A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980673



Internal ID12625124
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 StatusS
Merged Variantsesv2751069
Supporting Variants
SamplesBEC_104
Known GenesDDX11
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980673
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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