A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12232478



Internal ID2234294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:25695293..25711977hg38UCSC Ensembl
chr6:25695521..25712205hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3816685
hg1916685
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608389
Supporting Variants
SamplesNA19041
Known GenesSCGN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12232478
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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