A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10239594



Internal ID515268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:192745951..192750725hg38UCSC Ensembl
chr1:192715081..192719855hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg384775
hg194775
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588360
Supporting Variants
SamplesHG00185
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10239594
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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