A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891048



Internal ID18838758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196971388..196977645hg38UCSC Ensembl
Outerchr1:196971388..196977645hg38UCSC Ensembl
Innerchr1:196940518..196946775hg19UCSC Ensembl
Outerchr1:196940518..196946775hg19UCSC Ensembl
Innerchr1:195207141..195213398hg18UCSC Ensembl
Outerchr1:195207141..195213398hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg386258
hg196258
hg186258
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25786750
Samples
Known GenesCFHR5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891048
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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