A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643495



Internal ID6683567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4293103..4294222hg38UCSC Ensembl
Innerchr19:4293103..4294222hg38UCSC Ensembl
Outerchr19:4292914..4294447hg38UCSC Ensembl
chr19:4293100..4294219hg19UCSC Ensembl
Innerchr19:4293100..4294219hg19UCSC Ensembl
Outerchr19:4292911..4294444hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381120
hg191120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15980405, essv15980402, essv15980403, essv15980404, essv15980401, essv15980406, essv15980400
SamplesHG02508, NA19397, NA19393, HG02343, NA20289, NA19350, HG01890
Known GenesTMIGD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643495
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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