A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15760236



Internal ID2418816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81126529..81136632hg38UCSC Ensembl
chr17:79100329..79110432hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3810104
hg1910104
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641392
Supporting Variants
SamplesHG02139
Known GenesAATK, MIR1250
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15760236
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