A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10447719



Internal ID449535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32448908..32740362hg38UCSC Ensembl
chr2:32673976..32965429hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38291455
hg19291454
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590254
Supporting Variants
SamplesHG01344
Known GenesBIRC6, MIR4765, MIR558, TTC27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10447719
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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