A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985744



Internal ID12637287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:40688597..40781713hg38UCSC Ensembl
Innerchr12:41082399..41175515hg19UCSC Ensembl
Innerchr12:39368666..39461782hg18UCSC Ensembl
Innerchr12:39368666..39461782hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3893117
hg1993117
hg1893117
hg1793117
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)essv6985744
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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