A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15961938



Internal ID5963754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:323368..334484hg38UCSC Ensembl
chr19:323368..334484hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3811117
hg1911117
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643347
Supporting Variants
SamplesNA18616
Known GenesMIER2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15961938
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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