A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3341518



Internal ID14841787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:57915237..57915249hg38UCSC Ensembl
Innerchr17:57915228..57915255hg38UCSC Ensembl
Outerchr17:57915216..57915270hg38UCSC Ensembl
chr17:55992598..55992610hg19UCSC Ensembl
Innerchr17:55992589..55992616hg19UCSC Ensembl
Outerchr17:55992577..55992631hg19UCSC Ensembl
chr17:53347597..53347609hg18UCSC Ensembl
Innerchr17:53347615..53347588hg18UCSC Ensembl
Outerchr17:53347576..53347630hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8972001, essv8971995, essv8972000, essv8972005, essv8971999, essv8972011, essv8972010, essv8971997, essv8971993, essv8972007, essv8971996, essv8972008, essv8971990, essv8971998, essv8972009, essv8972006, essv8971992, essv8972004, essv8971994
SamplesNA11881, NA18523, NA19114, NA19093, NA18516, NA18489, NA19210, NA18507, NA19147, NA18912, NA18508, NA07357, NA07346, NA18907, NA12749, NA19116, NA19099, NA18853, NA18519
Known GenesCUEDC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3341518
Frequency
Sample Size185
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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