A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13793449



Internal ID3795265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46858808..46987533hg38UCSC Ensembl
chr10:48751829..48880554hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38128726
hg19128726
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623148
Supporting Variants
SamplesNA12287
Known GenesFRMPD2P1, PTPN20A, PTPN20B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13793449
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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