A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12545261



Internal ID6318873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129546692..129574682hg38UCSC Ensembl
Innerchr6:129546842..129574532hg38UCSC Ensembl
Outerchr6:129546542..129574832hg38UCSC Ensembl
chr6:129867837..129895827hg19UCSC Ensembl
Innerchr6:129867987..129895677hg19UCSC Ensembl
Outerchr6:129867687..129895977hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg3827991
hg1927991
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610770
Supporting Variants
SamplesNA19917
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12545261
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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