A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15698761



Internal ID4429554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:52399824..52400900hg38UCSC Ensembl
Innerchr17:52399874..52400808hg38UCSC Ensembl
Outerchr17:52399717..52401007hg38UCSC Ensembl
chr17:50477184..50478260hg19UCSC Ensembl
Innerchr17:50477234..50478168hg19UCSC Ensembl
Outerchr17:50477077..50478367hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg381077
hg191077
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640782
Supporting Variants
SamplesHG03943
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15698761
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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