A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16107463



Internal ID2999829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:58254056..58271300hg38UCSC Ensembl
Innerchr19:58254070..58271286hg38UCSC Ensembl
Outerchr19:58254042..58271314hg38UCSC Ensembl
chr19:58765422..58782666hg19UCSC Ensembl
Innerchr19:58765436..58782652hg19UCSC Ensembl
Outerchr19:58765408..58782680hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3817245
hg1917245
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644929
Supporting Variants
SamplesHG02646
Known GenesZNF544
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16107463
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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