A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15602704



Internal ID4030719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6714603..6716057hg38UCSC Ensembl
Innerchr17:6714617..6716044hg38UCSC Ensembl
Outerchr17:6714590..6716071hg38UCSC Ensembl
chr17:6617922..6619376hg19UCSC Ensembl
Innerchr17:6617936..6619363hg19UCSC Ensembl
Outerchr17:6617909..6619390hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381455
hg191455
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639843
Supporting Variants
SamplesHG03684
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15602704
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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