A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690829



Internal ID15060120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41375874..41383072hg38UCSC Ensembl
Innerchr17:41376874..41382072hg38UCSC Ensembl
Outerchr17:41374874..41384072hg38UCSC Ensembl
chr17:39532126..39539324hg19UCSC Ensembl
Innerchr17:39533126..39538324hg19UCSC Ensembl
Outerchr17:39531126..39540324hg19UCSC Ensembl
chr17:36785652..36792850hg18UCSC Ensembl
Innerchr17:36786652..36791850hg18UCSC Ensembl
Outerchr17:36784652..36793850hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg387199
hg197199
hg187199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3430336
Supporting Variants
SamplesNA19239
Known GenesKRT34
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690829
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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