A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675657



Internal ID9595076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63526487..63539627hg38UCSC Ensembl
chr17:61603848..61616988hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3813141
hg1913141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5926710
SamplesNA18574
Known GenesKCNH6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675657
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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