A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983690



Internal ID12629092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31139486..31346737hg38UCSC Ensembl
Innerchr12:31292420..31499671hg19UCSC Ensembl
Innerchr12:31183687..31390938hg18UCSC Ensembl
Innerchr12:31183687..31390938hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38207252
hg19207252
hg18207252
hg17207252
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751077
Supporting Variants
SamplesBEC_613
Known GenesFAM60A, FLJ13224
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983690
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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