A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15656994



Internal ID2248294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29266156..29267099hg38UCSC Ensembl
Innerchr17:29266169..29267087hg38UCSC Ensembl
Outerchr17:29266144..29267112hg38UCSC Ensembl
chr17:27593174..27594117hg19UCSC Ensembl
Innerchr17:27593187..27594105hg19UCSC Ensembl
Outerchr17:27593162..27594130hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38944
hg19944
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640323
Supporting Variants
SamplesHG02014
Known GenesNUFIP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15656994
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