A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34271



Internal ID12990310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:28641104..28753355hg38UCSC Ensembl
Innerchr4:28642726..28754977hg19UCSC Ensembl
Innerchr4:28251824..28364075hg18UCSC Ensembl
Innerchr4:28318995..28431246hg17UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38112252
hg19112252
hg18112252
hg17112252
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv184e55
Supporting Variantsessv6989149, essv6980123, essv6987719
SamplesNA18956
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)esv34271
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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