A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15612986



Internal ID5524383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12594688..12597496hg38UCSC Ensembl
Innerchr17:12594703..12597482hg38UCSC Ensembl
Outerchr17:12594674..12597511hg38UCSC Ensembl
chr17:12498005..12500813hg19UCSC Ensembl
Innerchr17:12498020..12500799hg19UCSC Ensembl
Outerchr17:12497991..12500828hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg382809
hg192809
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639974
Supporting Variants
SamplesNA18994
Known GenesLINC00670
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15612986
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