A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12900838



Internal ID1143910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:95702481..95748496hg38UCSC Ensembl
chr7:95331793..95377808hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3846016
hg1946016
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614198
Supporting Variants
SamplesHG00956
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12900838
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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