A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594661



Internal ID6634937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232612260..232618683hg38UCSC Ensembl
chr2:233476970..233483393hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg386424
hg196424
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10877655, essv10877654
SamplesHG03556, HG03854
Known GenesEFHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594661
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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