A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11493566



Internal ID1495382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69947634..69996762hg38UCSC Ensembl
chr4:70813352..70862479hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3849129
hg1949128
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600925
Supporting Variants
SamplesHG00654
Known GenesCSN2, STATH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11493566
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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