A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12985089



Internal ID2986905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140583664..140608095hg38UCSC Ensembl
chr7:140283464..140307895hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3824432
hg1924432
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615241
Supporting Variants
SamplesNA19835
Known GenesDENND2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12985089
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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