A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12172092



Internal ID1496790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:1030076..1068256hg38UCSC Ensembl
chr6:1030311..1068491hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3838181
hg1938181
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607880
Supporting Variants
SamplesHG01375
Known GenesLOC285768
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12172092
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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