A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641365



Internal ID7028139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80175196..80176036hg38UCSC Ensembl
Innerchr17:80175246..80175986hg38UCSC Ensembl
Outerchr17:80175146..80176086hg38UCSC Ensembl
chr17:78148995..78149835hg19UCSC Ensembl
Innerchr17:78149045..78149785hg19UCSC Ensembl
Outerchr17:78148945..78149885hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38841
hg19841
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15756249
SamplesHG01708
Known GenesCARD14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641365
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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