A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752064



Internal ID12985616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:22469723..22699483hg38UCSC Ensembl
Innerchr5:22469832..22699592hg19UCSC Ensembl
Innerchr5:22505589..22735349hg18UCSC Ensembl
Innerchr5:22505589..22735349hg17UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38229761
hg19229761
hg18229761
hg17229761
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985993, essv6990176, essv6985994, essv6985995
SamplesSPC_99
Known GenesCDH12
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)esv2752064
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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