A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15657938



Internal ID5659754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31133550..31138736hg38UCSC Ensembl
Innerchr17:31133581..31138705hg38UCSC Ensembl
Outerchr17:31133519..31138767hg38UCSC Ensembl
chr17:29460568..29465754hg19UCSC Ensembl
Innerchr17:29460599..29465723hg19UCSC Ensembl
Outerchr17:29460537..29465785hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg385187
hg195187
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640362
Supporting Variants
SamplesHG03078
Known GenesNF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15657938
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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