A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16013684



Internal ID6015500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:22602151..22650770hg38UCSC Ensembl
chr19:22784953..22833572hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg3848620
hg1948620
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643959
Supporting Variants
SamplesNA21104
Known GenesLOC100996349, LOC440518, ZNF492
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16013684
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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