A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12792572



Internal ID4876487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:56642521..56691723hg38UCSC Ensembl
chr7:56710214..56759416hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3849203
hg1949203
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613281
Supporting Variants
SamplesNA12347
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12792572
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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