A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610847



Internal ID6997764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:132758216..132759360hg38UCSC Ensembl
Innerchr6:132758243..132759334hg38UCSC Ensembl
Outerchr6:132758190..132759387hg38UCSC Ensembl
chr6:133079355..133080499hg19UCSC Ensembl
Innerchr6:133079382..133080473hg19UCSC Ensembl
Outerchr6:133079329..133080526hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg381145
hg191145
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12554766, essv12554768, essv12554769, essv12554767
SamplesNA18940, HG00422, HG03784, NA19083
Known GenesVNN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610847
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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