A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16068445



Internal ID6070261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45941691..45943521hg38UCSC Ensembl
Innerchr19:45941756..45943457hg38UCSC Ensembl
Outerchr19:45941627..45943586hg38UCSC Ensembl
chr19:46444949..46446779hg19UCSC Ensembl
Innerchr19:46445014..46446715hg19UCSC Ensembl
Outerchr19:46444885..46446844hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381831
hg191831
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644515
Supporting Variants
SamplesHG00111
Known GenesNOVA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16068445
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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