A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15594624



Internal ID2685274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4304329..4486263hg38UCSC Ensembl
chr17:4207624..4389558hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38181935
hg19181935
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639773
Supporting Variants
SamplesHG02379
Known GenesSPNS3, UBE2G1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15594624
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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