A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12826567



Internal ID1052172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:68125020..68132140hg38UCSC Ensembl
chr7:67590007..67597127hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg387121
hg197121
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613568
Supporting Variants
SamplesHG00674
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12826567
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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