A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750799



Internal ID12984351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:118686634..118839604hg38UCSC Ensembl
Innerchr1:119229257..119382227hg19UCSC Ensembl
Innerchr1:119030780..119183750hg18UCSC Ensembl
Innerchr1:118941299..119094269hg17UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38152971
hg19152971
hg18152971
hg17152971
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981003, essv6981002, essv6981001
SamplesBEC_336
Known Genes
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)esv2750799
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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