A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15571333



Internal ID5573149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:425092..895536hg38UCSC Ensembl
Innerchr17:425242..895386hg38UCSC Ensembl
Outerchr17:424942..895686hg38UCSC Ensembl
chr17:274883..798776hg19UCSC Ensembl
Innerchr17:275033..798626hg19UCSC Ensembl
Outerchr17:274733..798926hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38470445
hg19523894
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639625
Supporting Variants
SamplesNA20317
Known GenesDBIL5P, FAM101B, FAM57A, GEMIN4, GLOD4, NXN, RNMTL1, VPS53
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15571333
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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