A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640181



Internal ID7026956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19752314..19758824hg38UCSC Ensembl
chr17:19655627..19662137hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg386511
hg196511
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15648043, essv15648035, essv15648052, essv15648044, essv15648049, essv15648051, essv15648045, essv15648038, essv15648046, essv15648048, essv15648036, essv15648037, essv15648039, essv15648032, essv15648040, essv15648031, essv15648042, essv15648034, essv15648047, essv15648050, essv15648041, essv15648033
SamplesNA19394, NA18861, HG02012, NA19920, HG03199, NA18519, NA19038, NA18933, HG03291, HG02449, HG01879, HG02953, HG02508, NA19225, NA19095, HG02635, NA19625, HG03109, HG01896, HG02722, NA19375, NA19121
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640181
Frequency
Sample Size2504
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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