A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16100314



Internal ID6102130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54976334..55017364hg38UCSC Ensembl
Innerchr19:54976834..55016864hg38UCSC Ensembl
Outerchr19:54975334..55018364hg38UCSC Ensembl
chr19:55487702..55528732hg19UCSC Ensembl
Innerchr19:55488202..55528232hg19UCSC Ensembl
Outerchr19:55486702..55529732hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3841031
hg1941031
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644827
Supporting Variants
SamplesHG00554
Known GenesGP6, NLRP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16100314
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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