A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640001



Internal ID7026779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:13722737..13726732hg38UCSC Ensembl
Innerchr17:13722774..13726696hg38UCSC Ensembl
Outerchr17:13722701..13726769hg38UCSC Ensembl
chr17:13626054..13630049hg19UCSC Ensembl
Innerchr17:13626091..13630013hg19UCSC Ensembl
Outerchr17:13626018..13630086hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg383996
hg193996
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15616487, essv15616488
SamplesNA19075, HG04225
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640001
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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