A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678143



Internal ID9944248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41087441..41107479hg38UCSC Ensembl
chr17:39243693..39263731hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3820039
hg1920039
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv552e199
Supporting Variantsessv6455391, essv6339755, essv6019263, essv6471760
SamplesNA19247, HG00328, NA19077, NA18630
Known GenesKRTAP4-8, KRTAP4-9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678143
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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