A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12937007



Internal ID2936838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:116905405..117023399hg38UCSC Ensembl
chr7:116545459..116663453hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38117995
hg19117995
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614701
Supporting Variants
SamplesHG03928
Known GenesCAPZA2, MIR6132, ST7, ST7-AS1, ST7-OT4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12937007
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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