A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12106446



Internal ID2975549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:155867396..155879840hg38UCSC Ensembl
chr5:155294406..155306850hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg3812445
hg1912445
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607270
Supporting Variants
SamplesHG02624
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12106446
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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