A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8971595



Internal ID13431994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:35356077..35356135hg38UCSC Ensembl
Innerchr17:35356094..35356116hg38UCSC Ensembl
Outerchr17:35356038..35356174hg38UCSC Ensembl
chr17:33683096..33683154hg19UCSC Ensembl
Innerchr17:33683113..33683135hg19UCSC Ensembl
Outerchr17:33683057..33683193hg19UCSC Ensembl
chr17:30707209..30707267hg18UCSC Ensembl
Innerchr17:30707248..30707226hg18UCSC Ensembl
Outerchr17:30707170..30707306hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38225
hg19225
hg18225
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3346849
Supporting Variants
SamplesNA12249
Known GenesSLFN11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8971595
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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