A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13953755



Internal ID3955571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:121506193..121507410hg38UCSC Ensembl
Innerchr10:121506248..121507356hg38UCSC Ensembl
Outerchr10:121506139..121507465hg38UCSC Ensembl
chr10:123265707..123266924hg19UCSC Ensembl
Innerchr10:123265762..123266870hg19UCSC Ensembl
Outerchr10:123265653..123266979hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg381218
hg191218
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624751
Supporting Variants
SamplesNA18536
Known GenesFGFR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13953755
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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