A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613275



Internal ID7000173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:56439072..56445439hg38UCSC Ensembl
chr7:56506765..56513132hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg386368
hg196368
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12791388, essv12791389
SamplesHG00115, HG03977
Known GenesLOC650226
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613275
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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