A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613505



Internal ID7000401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66464247..66581622hg38UCSC Ensembl
Innerchr7:66464397..66581472hg38UCSC Ensembl
Outerchr7:66464097..66581772hg38UCSC Ensembl
chr7:65929234..66046609hg19UCSC Ensembl
Innerchr7:65929384..66046459hg19UCSC Ensembl
Outerchr7:65929084..66046759hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38117376
hg19117376
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12819199
SamplesNA18634
Known GenesLOC493754
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613505
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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