A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13685432



Internal ID3932942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:5179510..5233056hg38UCSC Ensembl
Innerchr10:5179532..5233034hg38UCSC Ensembl
Outerchr10:5179488..5233078hg38UCSC Ensembl
chr10:5221473..5275019hg19UCSC Ensembl
Innerchr10:5221495..5274997hg19UCSC Ensembl
Outerchr10:5221451..5275041hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3853547
hg1953547
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622225
Supporting Variants
SamplesHG03585
Known GenesAKR1C4, AKR1CL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13685432
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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