A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641142



Internal ID7027916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:70095542..70101220hg38UCSC Ensembl
Innerchr17:70095570..70101192hg38UCSC Ensembl
Outerchr17:70095514..70101248hg38UCSC Ensembl
chr17:68091683..68097361hg19UCSC Ensembl
Innerchr17:68091711..68097333hg19UCSC Ensembl
Outerchr17:68091655..68097389hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg385679
hg195679
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15731878, essv15731877
SamplesHG03960, NA12282
Known GenesKCNJ16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641142
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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