A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750820



Internal ID12984372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190028927..190082981hg38UCSC Ensembl
Innerchr1:189998057..190052111hg19UCSC Ensembl
Innerchr1:188264680..188318734hg18UCSC Ensembl
Innerchr1:186729714..186783768hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3854055
hg1954055
hg1854055
hg1754055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981914, essv6989542
SamplesBEC_501
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750820
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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