A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13025232



Internal ID6441407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:153949619..154250822hg38UCSC Ensembl
chr7:153646704..153947907hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg38301204
hg19301204
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615583
Supporting Variants
SamplesNA20509
Known GenesDPP6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13025232
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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