A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611789



Internal ID6652006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:827547..831350hg38UCSC Ensembl
Innerchr7:827599..831299hg38UCSC Ensembl
Outerchr7:827496..831402hg38UCSC Ensembl
chr7:867184..870987hg19UCSC Ensembl
Innerchr7:867236..870936hg19UCSC Ensembl
Outerchr7:867133..871039hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg383804
hg193804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12657955, essv12657957, essv12657954, essv12657956
SamplesNA19917, HG00182, HG00266, NA20767
Known GenesSUN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611789
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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