A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15580861



Internal ID4300672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1272191..1283394hg38UCSC Ensembl
Innerchr17:1272191..1283394hg38UCSC Ensembl
Outerchr17:1271691..1283894hg38UCSC Ensembl
chr17:1175485..1186688hg19UCSC Ensembl
Innerchr17:1175485..1186688hg19UCSC Ensembl
Outerchr17:1174985..1187188hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3811204
hg1911204
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639678
Supporting Variants
SamplesHG03858
Known GenesTUSC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15580861
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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