A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15711245



Internal ID3468540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58922185..58937823hg38UCSC Ensembl
Innerchr17:58922685..58937323hg38UCSC Ensembl
Outerchr17:58921185..58938823hg38UCSC Ensembl
chr17:56999546..57015184hg19UCSC Ensembl
Innerchr17:57000046..57014684hg19UCSC Ensembl
Outerchr17:56998546..57016184hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3815639
hg1915639
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640898
Supporting Variants
SamplesHG03086
Known GenesPPM1E
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15711245
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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