A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13803070



Internal ID3804886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50507424..50513989hg38UCSC Ensembl
chr10:52267184..52273749hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg386566
hg196566
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623206
Supporting Variants
SamplesNA21133
Known GenesSGMS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13803070
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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