A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623130



Internal ID6663298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46224802..46263254hg38UCSC Ensembl
chr10:47596038..47634490hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3838453
hg1938453
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv121e214
Supporting Variantsessv13785797, essv13785801, essv13785800, essv13785804, essv13785803, essv13785799, essv13785798, essv13785805, essv13785802
SamplesHG03548, HG00315, NA18940, HG03385, HG03490, NA12275, HG00290, HG02309, HG01269
Known GenesANTXRLP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623130
Frequency
Sample Size2504
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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