A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641452



Internal ID7028226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:83078756..83111995hg38UCSC Ensembl
chr17:81036632..81068945hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3833240
hg1932314
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15771385, essv15771380, essv15771382, essv15771378, essv15771383, essv15771386, essv15771384, essv15771392, essv15771394, essv15771389, essv15771387, essv15771388, essv15771390, essv15771379, essv15771393, essv15771395, essv15771381, essv15771391
SamplesNA18861, HG02973, HG03130, NA18504, NA19379, HG03099, NA19138, NA19904, HG03343, HG02334, HG02014, HG01990, NA19147, HG03117, HG02941, NA19310, NA19030, HG03129
Known GenesMETRNL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641452
Frequency
Sample Size2504
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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