A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14483236



Internal ID4485052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52692536..52693909hg38UCSC Ensembl
Innerchr12:52692538..52693908hg38UCSC Ensembl
Outerchr12:52692535..52693911hg38UCSC Ensembl
chr12:53086320..53087693hg19UCSC Ensembl
Innerchr12:53086322..53087692hg19UCSC Ensembl
Outerchr12:53086319..53087695hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381374
hg191374
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629525
Supporting Variants
SamplesHG04195
Known GenesKRT77
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14483236
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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