A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15990696



Internal ID5992512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11184167..11185832hg38UCSC Ensembl
Innerchr19:11184167..11185832hg38UCSC Ensembl
Outerchr19:11184167..11185832hg38UCSC Ensembl
chr19:11294843..11296508hg19UCSC Ensembl
Innerchr19:11294843..11296508hg19UCSC Ensembl
Outerchr19:11294843..11296508hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381666
hg191666
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643666
Supporting Variants
SamplesNA20530
Known GenesKANK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15990696
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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