A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8673456



Internal ID15069134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:57915209..57915245hg38UCSC Ensembl
Innerchr17:57915204..57915248hg38UCSC Ensembl
Outerchr17:57915168..57915284hg38UCSC Ensembl
chr17:55992570..55992606hg19UCSC Ensembl
Innerchr17:55992565..55992609hg19UCSC Ensembl
Outerchr17:55992529..55992645hg19UCSC Ensembl
chr17:53347569..53347605hg18UCSC Ensembl
Innerchr17:53347608..53347564hg18UCSC Ensembl
Outerchr17:53347528..53347644hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38283
hg19283
hg18283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3327169
Supporting Variants
SamplesNA19239
Known GenesCUEDC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8673456
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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