A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639655



Internal ID7026433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:917729..922615hg38UCSC Ensembl
Innerchr17:917729..922615hg38UCSC Ensembl
Outerchr17:917559..922803hg38UCSC Ensembl
chr17:820969..825855hg19UCSC Ensembl
Innerchr17:820969..825855hg19UCSC Ensembl
Outerchr17:820799..826043hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg384887
hg194887
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15578153, essv15578152, essv15578151
SamplesHG02493, NA21088, NA21101
Known GenesNXN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639655
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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