A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608868



Internal ID6995792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45826089..45827335hg38UCSC Ensembl
Innerchr6:45826100..45827324hg38UCSC Ensembl
Outerchr6:45826078..45827346hg38UCSC Ensembl
chr6:45793826..45795072hg19UCSC Ensembl
Innerchr6:45793837..45795061hg19UCSC Ensembl
Outerchr6:45793815..45795083hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381247
hg191247
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12337731, essv12337724, essv12337723, essv12337726, essv12337732, essv12337727, essv12337729, essv12337725, essv12337730, essv12337728
SamplesHG03717, NA21109, HG04106, NA20318, NA20876, HG03802, HG04200, HG03692, HG03850, HG04056
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608868
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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