A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13803064



Internal ID3804880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50501615..50508923hg38UCSC Ensembl
chr10:52261375..52268683hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg387309
hg197309
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623203
Supporting Variants
SamplesNA12829
Known GenesSGMS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13803064
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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