A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15716553



Internal ID5718369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61866418..61924070hg38UCSC Ensembl
chr17:59943779..60001431hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3857653
hg1957653
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640956
Supporting Variants
SamplesHG02521
Known GenesINTS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15716553
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer