A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611751



Internal ID6998656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:109065..180542hg38UCSC Ensembl
chr7:109065..180542hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3871478
hg1971478
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12656638, essv12656637, essv12656636, essv12656639, essv12656640, essv12656641
SamplesHG00187, HG00325, NA19731, HG00183, HG00328, HG03672
Known GenesLOC100507642
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611751
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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