A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751098



Internal ID12637964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:40688597..40786433hg38UCSC Ensembl
Innerchr12:41082399..41180235hg19UCSC Ensembl
Innerchr12:39368666..39466502hg18UCSC Ensembl
Innerchr12:39368666..39466502hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3897837
hg1997837
hg1897837
hg1797837
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985744, essv6985746, essv6985745, essv6987243, essv6987244
SamplesSPC_4
Known GenesCNTN1
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)esv2751098
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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