A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639770



Internal ID6679860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4148059..4213973hg38UCSC Ensembl
chr17:4051353..4117268hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3865915
hg1965916
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv557e214
Supporting Variantsessv15594618, essv15594619
SamplesHG02804, HG03461
Known GenesANKFY1, CYB5D2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639770
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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