A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16003695



Internal ID6271556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17527119..17528995hg38UCSC Ensembl
Innerchr19:17527119..17528995hg38UCSC Ensembl
Outerchr19:17527060..17529175hg38UCSC Ensembl
chr19:17637928..17639804hg19UCSC Ensembl
Innerchr19:17637928..17639804hg19UCSC Ensembl
Outerchr19:17637869..17639984hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381877
hg191877
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643822
Supporting Variants
SamplesNA19789
Known GenesFAM129C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16003695
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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