A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643645



Internal ID7030404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:9938004..9938946hg38UCSC Ensembl
Innerchr19:9938054..9938896hg38UCSC Ensembl
Outerchr19:9937752..9939198hg38UCSC Ensembl
chr19:10048680..10049622hg19UCSC Ensembl
Innerchr19:10048730..10049572hg19UCSC Ensembl
Outerchr19:10048428..10049874hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38943
hg19943
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15990257, essv15990273, essv15990270, essv15990274, essv15990262, essv15990280, essv15990260, essv15990256, essv15990267, essv15990265, essv15990275, essv15990264, essv15990255, essv15990269, essv15990259, essv15990279, essv15990263, essv15990272, essv15990261, essv15990281, essv15990268, essv15990266, essv15990277, essv15990258, essv15990278, essv15990276, essv15990271
SamplesNA18508, HG03163, NA19332, HG03190, NA19446, NA19457, HG02489, NA18868, NA19024, NA20355, NA20318, NA19027, HG03048, NA18516, HG01889, HG03382, NA19712, NA18865, NA19467, HG03108, HG02558, NA19143, NA19328, HG02971, NA20334, NA19214, NA19431
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643645
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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