A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593394



Internal ID6980718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173921104..173932730hg38UCSC Ensembl
chr2:174785832..174797458hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3811627
hg1911627
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10763201, essv10763202
SamplesHG03808, HG02604
Known GenesSP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593394
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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