A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641312



Internal ID6681397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77380806..77386410hg38UCSC Ensembl
Innerchr17:77380807..77386409hg38UCSC Ensembl
Outerchr17:77380805..77386411hg38UCSC Ensembl
chr17:75376888..75382492hg19UCSC Ensembl
Innerchr17:75376889..75382491hg19UCSC Ensembl
Outerchr17:75376887..75382493hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg385605
hg195605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15748447, essv15748445, essv15748446
SamplesHG02040, HG01809, NA18567
Known GenesSEPT9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641312
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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