A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640597



Internal ID6680684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42014324..42015132hg38UCSC Ensembl
Innerchr17:42014455..42015082hg38UCSC Ensembl
Outerchr17:42014230..42015226hg38UCSC Ensembl
chr17:40166342..40167150hg19UCSC Ensembl
Innerchr17:40166473..40167100hg19UCSC Ensembl
Outerchr17:40166248..40167244hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38809
hg19809
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15679042, essv15679043, essv15679046, essv15679041, essv15679044, essv15679045
SamplesNA20543, HG00151, HG00356, HG00129, NA12749, NA20827
Known GenesDNAJC7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640597
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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