A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15611628



Internal ID2267263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:11277644..11285279hg38UCSC Ensembl
chr17:11180961..11188596hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg387636
hg197636
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639951
Supporting Variants
SamplesHG02026
Known GenesSHISA6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15611628
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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