A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635822



Internal ID7022620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:22818925..22904223hg38UCSC Ensembl
chr15:22968845..23054143hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3885299
hg1985299
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15176450, essv15176452, essv15176446, essv15176445, essv15176455, essv15176454, essv15176449, essv15176448, essv15176453, essv15176456, essv15176451, essv15176457, essv15176447
SamplesHG04002, HG02792, NA20814, HG03640, HG03937, HG02603, HG02597, HG00657, NA18555, HG02184, HG01113, HG01395, NA21091
Known GenesCYFIP1, NIPA1, NIPA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635822
Frequency
Sample Size2504
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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