A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641385



Internal ID7028159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80909612..80913723hg38UCSC Ensembl
Innerchr17:80909621..80913714hg38UCSC Ensembl
Outerchr17:80909603..80913732hg38UCSC Ensembl
chr17:78883412..78887523hg19UCSC Ensembl
Innerchr17:78883421..78887514hg19UCSC Ensembl
Outerchr17:78883403..78887532hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg384112
hg194112
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15760059, essv15760061, essv15760058, essv15760062, essv15760063, essv15760060
SamplesHG03999, NA19917, NA20885, NA20542, HG03653, HG03869
Known GenesRPTOR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641385
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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