A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639895



Internal ID6679985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9232203..9233854hg38UCSC Ensembl
Innerchr17:9232203..9233854hg38UCSC Ensembl
Outerchr17:9232092..9233977hg38UCSC Ensembl
chr17:9135520..9137171hg19UCSC Ensembl
Innerchr17:9135520..9137171hg19UCSC Ensembl
Outerchr17:9135409..9137294hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381652
hg191652
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15610213, essv15610210, essv15610199, essv15610184, essv15610216, essv15610202, essv15610192, essv15610208, essv15610186, essv15610188, essv15610205, essv15610187, essv15610182, essv15610193, essv15610194, essv15610196, essv15610204, essv15610198, essv15610189, essv15610200, essv15610209, essv15610183, essv15610195, essv15610207, essv15610190, essv15610203, essv15610206, essv15610191, essv15610201, essv15610211, essv15610185, essv15610215, essv15610214, essv15610197, essv15610181, essv15610212
SamplesHG02666, NA19913, HG03354, NA20351, HG01241, HG03521, NA19819, NA21110, HG03563, NA18501, NA21118, HG02010, HG02471, NA19701, HG03199, HG03159, NA21102, NA21115, HG00306, NA19247, HG03169, NA19172, HG02449, NA21141, NA19131, HG02536, HG02339, HG03175, HG03363, HG02281, NA20867, NA19719, HG03077, HG03271, NA20339, HG03095
Known GenesNTN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639895
Frequency
Sample Size2504
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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