A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15987670



Internal ID1954367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8092084..8093534hg38UCSC Ensembl
Innerchr19:8092091..8093527hg38UCSC Ensembl
Outerchr19:8092077..8093541hg38UCSC Ensembl
chr19:8156968..8158418hg19UCSC Ensembl
Innerchr19:8156975..8158411hg19UCSC Ensembl
Outerchr19:8156961..8158425hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381451
hg191451
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643602
Supporting Variants
SamplesHG01810
Known GenesFBN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15987670
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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