A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15597334



Internal ID6633433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5057479..5061066hg38UCSC Ensembl
Innerchr17:5057570..5061016hg38UCSC Ensembl
Outerchr17:5057429..5061116hg38UCSC Ensembl
chr17:4960774..4964361hg19UCSC Ensembl
Innerchr17:4960865..4964311hg19UCSC Ensembl
Outerchr17:4960724..4964411hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg383588
hg193588
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639802
Supporting Variants
SamplesNA20795
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15597334
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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