A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641360



Internal ID7028134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80051450..80054801hg38UCSC Ensembl
Innerchr17:80051500..80054751hg38UCSC Ensembl
Outerchr17:80051382..80054869hg38UCSC Ensembl
chr17:78025249..78028600hg19UCSC Ensembl
Innerchr17:78025299..78028550hg19UCSC Ensembl
Outerchr17:78025181..78028668hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg383352
hg193352
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15753820, essv15753819
SamplesNA19214, HG01437
Known GenesCCDC40
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641360
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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