A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641364



Internal ID6681449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80169578..80199257hg38UCSC Ensembl
Innerchr17:80169728..80199107hg38UCSC Ensembl
Outerchr17:80169428..80199407hg38UCSC Ensembl
chr17:78143377..78173056hg19UCSC Ensembl
Innerchr17:78143527..78172906hg19UCSC Ensembl
Outerchr17:78143227..78173206hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3829680
hg1929680
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15756248
SamplesNA18632
Known GenesCARD14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641364
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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