A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610840



Internal ID6997757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:132734101..132740728hg38UCSC Ensembl
Innerchr6:132734101..132740728hg38UCSC Ensembl
Outerchr6:132733840..132741000hg38UCSC Ensembl
chr6:133055240..133061867hg19UCSC Ensembl
Innerchr6:133055240..133061867hg19UCSC Ensembl
Outerchr6:133054979..133062139hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg386628
hg196628
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12554753, essv12554751, essv12554750, essv12554752, essv12554749
SamplesHG04229, HG03753, NA21109, HG02597, NA21118
Known GenesVNN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610840
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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