A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13793560



Internal ID539052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:48081876..48182632hg38UCSC Ensembl
chr10:49289919..49390675hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38100757
hg19100757
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623149
Supporting Variants
SamplesHG00235
Known GenesFRMPD2, FRMPD2P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13793560
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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