A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16033349



Internal ID1723972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:30113288..30115709hg38UCSC Ensembl
Innerchr19:30113296..30115702hg38UCSC Ensembl
Outerchr19:30113281..30115717hg38UCSC Ensembl
chr19:30604195..30606616hg19UCSC Ensembl
Innerchr19:30604203..30606609hg19UCSC Ensembl
Outerchr19:30604188..30606624hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg382422
hg192422
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644135
Supporting Variants
SamplesHG01600
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16033349
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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