A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12769130



Internal ID2770946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50485393..50585805hg38UCSC Ensembl
chr7:50553091..50653502hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38100413
hg19100412
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613126
Supporting Variants
SamplesNA19431
Known GenesDDC, LOC100129427
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12769130
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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