A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594649



Internal ID6634925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232381449..232416439hg38UCSC Ensembl
chr2:233246159..233281149hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3834991
hg1934991
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10876875, essv10876877, essv10876870, essv10876879, essv10876873, essv10876878, essv10876874, essv10876869, essv10876872, essv10876867, essv10876876, essv10876880, essv10876871, essv10876868
SamplesNA21099, NA20507, NA19792, HG01843, NA19681, HG03868, HG01176, HG01312, HG03861, HG03718, HG03644, HG03805, HG00472, NA18622
Known GenesALPP, ALPPL2, ECEL1P2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594649
Frequency
Sample Size2504
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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