A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894193



Internal ID19185262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:57647020..57678808hg38UCSC Ensembl
Outerchr5:57643357..57687646hg38UCSC Ensembl
Innerchr5:56942847..56974635hg19UCSC Ensembl
Outerchr5:56939184..56983473hg19UCSC Ensembl
Innerchr5:56978604..57010392hg18UCSC Ensembl
Outerchr5:56974941..57019230hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3844290
hg1944290
hg1844290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25797528, essv25783620, essv25797864
Samples
Known GenesLOC101928505
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894193
Frequency
Sample Size3017
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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