A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6462952



Internal ID9538651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:58730492..58731467hg38UCSC Ensembl
Outerchr17:58730335..58731620hg38UCSC Ensembl
Innerchr17:56807853..56808828hg19UCSC Ensembl
Outerchr17:56807696..56808981hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg381286
hg191286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2664231
Supporting Variants
SamplesNA19068
Known GenesRAD51C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6462952
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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