A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656803



Internal ID9922908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:7598663..7599014hg38UCSC Ensembl
Outerchr19:7598626..7599064hg38UCSC Ensembl
Innerchr19:7663549..7663900hg19UCSC Ensembl
Outerchr19:7663512..7663950hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38439
hg19439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6258040, essv5524524, essv5985176
SamplesHG00475, NA18610, NA18562
Known GenesCAMSAP3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656803
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer