A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987243



Internal ID12637271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:40688597..40786244hg38UCSC Ensembl
Innerchr12:41082399..41180046hg19UCSC Ensembl
Innerchr12:39368666..39466313hg18UCSC Ensembl
Innerchr12:39368666..39466313hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3897648
hg1997648
hg1897648
hg1797648
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751098
Supporting Variants
SamplesSPC_4
Known GenesCNTN1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987243
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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