A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15601890



Internal ID1640298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6459264..6481417hg38UCSC Ensembl
Innerchr17:6459264..6481417hg38UCSC Ensembl
Outerchr17:6458764..6481917hg38UCSC Ensembl
chr17:6362584..6384737hg19UCSC Ensembl
Innerchr17:6362584..6384737hg19UCSC Ensembl
Outerchr17:6362084..6385237hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3822154
hg1922154
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639841
Supporting Variants
SamplesHG01512
Known GenesPITPNM3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15601890
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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