A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15715507



Internal ID5717323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60334589..60336619hg38UCSC Ensembl
Innerchr17:60334611..60336597hg38UCSC Ensembl
Outerchr17:60334567..60336641hg38UCSC Ensembl
chr17:58411950..58413980hg19UCSC Ensembl
Innerchr17:58411972..58413958hg19UCSC Ensembl
Outerchr17:58411928..58414002hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg382031
hg192031
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640923
Supporting Variants
SamplesNA21144
Known GenesUSP32
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15715507
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