A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613126



Internal ID7000024
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1286e214
Supporting Variantsessv12769131, essv12769130, essv12769132, essv12769129
SamplesNA19456, HG02470, NA20528, NA19431
Known GenesDDC, LOC100129427
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613126
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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