A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9674414



Internal ID14911984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:57848856..57848875hg38UCSC Ensembl
Innerchr17:57848852..57848879hg38UCSC Ensembl
Outerchr17:57848833..57848898hg38UCSC Ensembl
chr17:55926217..55926236hg19UCSC Ensembl
Innerchr17:55926213..55926240hg19UCSC Ensembl
Outerchr17:55926194..55926259hg19UCSC Ensembl
chr17:53281216..53281235hg18UCSC Ensembl
Innerchr17:53281239..53281212hg18UCSC Ensembl
Outerchr17:53281193..53281258hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3387547
Supporting Variants
SamplesNA19143
Known GenesMRPS23
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9674414
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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