A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641342



Internal ID6681427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:79031520..79038284hg38UCSC Ensembl
Innerchr17:79031520..79038284hg38UCSC Ensembl
Outerchr17:79031412..79038389hg38UCSC Ensembl
chr17:77027602..77034366hg19UCSC Ensembl
Innerchr17:77027602..77034366hg19UCSC Ensembl
Outerchr17:77027494..77034471hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg386765
hg196765
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15753159
SamplesHG02134
Known GenesC1QTNF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641342
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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