A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640656



Internal ID6680743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44923787..44925188hg38UCSC Ensembl
Innerchr17:44923787..44925188hg38UCSC Ensembl
Outerchr17:44923552..44925350hg38UCSC Ensembl
chr17:43001155..43002556hg19UCSC Ensembl
Innerchr17:43001155..43002556hg19UCSC Ensembl
Outerchr17:43000920..43002718hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381402
hg191402
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15680784, essv15680782, essv15680783
SamplesHG01986, NA18924, NA18505
Known GenesKIF18B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640656
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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