A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12157258



Internal ID2159074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181134922..181164679hg38UCSC Ensembl
chr5:180561922..180591679hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3829758
hg1929758
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607816
Supporting Variants
SamplesHG01248
Known GenesOR2V2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12157258
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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