A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16005743



Internal ID2725592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19701528..19702283hg38UCSC Ensembl
Innerchr19:19701556..19702255hg38UCSC Ensembl
Outerchr19:19701500..19702311hg38UCSC Ensembl
chr19:19812337..19813092hg19UCSC Ensembl
Innerchr19:19812365..19813064hg19UCSC Ensembl
Outerchr19:19812309..19813120hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38756
hg19756
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643855
Supporting Variants
SamplesHG02398
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16005743
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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