A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16066512



Internal ID6068328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45335731..45345968hg38UCSC Ensembl
Innerchr19:45335731..45345968hg38UCSC Ensembl
Outerchr19:45335569..45346190hg38UCSC Ensembl
chr19:45838989..45849226hg19UCSC Ensembl
Innerchr19:45838989..45849226hg19UCSC Ensembl
Outerchr19:45838827..45849448hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3810238
hg1910238
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644503
Supporting Variants
SamplesNA20888
Known GenesKLC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16066512
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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