A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34345



Internal ID12990384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:77904112..78030244hg38UCSC Ensembl
Innerchr14:78370455..78496587hg19UCSC Ensembl
Innerchr14:77440208..77566340hg18UCSC Ensembl
Innerchr14:77440208..77566340hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38126133
hg19126133
hg18126133
hg17126133
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978279, essv6978277, essv6987363, essv6978276, essv6978278
SamplesNA18995
Known GenesADCK1
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)esv34345
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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