A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639920



Internal ID6680010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9646989..9653998hg38UCSC Ensembl
Innerchr17:9647004..9653983hg38UCSC Ensembl
Outerchr17:9646974..9654013hg38UCSC Ensembl
chr17:9550306..9557315hg19UCSC Ensembl
Innerchr17:9550321..9557300hg19UCSC Ensembl
Outerchr17:9550291..9557330hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg387010
hg197010
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15610356
SamplesHG03943
Known GenesUSP43
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639920
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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