A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15610359



Internal ID5612175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9765539..9773391hg38UCSC Ensembl
Innerchr17:9765539..9773391hg38UCSC Ensembl
Outerchr17:9765367..9773608hg38UCSC Ensembl
chr17:9668856..9676708hg19UCSC Ensembl
Innerchr17:9668856..9676708hg19UCSC Ensembl
Outerchr17:9668684..9676925hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg387853
hg197853
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639922
Supporting Variants
SamplesHG02645
Known GenesDHRS7C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15610359
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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