A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594652



Internal ID6634928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232406991..232447204hg38UCSC Ensembl
chr2:233271701..233311914hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3840214
hg1940214
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10876890, essv10876889, essv10876892, essv10876891
SamplesHG01843, HG00472, NA18622, NA20507
Known GenesALPPL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594652
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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