A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15724804



Internal ID1398273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:65126920..65133047hg38UCSC Ensembl
Innerchr17:65127070..65132897hg38UCSC Ensembl
Outerchr17:65126770..65133197hg38UCSC Ensembl
chr17:63123038..63129165hg19UCSC Ensembl
Innerchr17:63123188..63129015hg19UCSC Ensembl
Outerchr17:63122888..63129315hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg386128
hg196128
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641038
Supporting Variants
SamplesHG01269
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15724804
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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