A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14629440



Internal ID5993727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:127940393..127944457hg38UCSC Ensembl
Innerchr12:127940395..127944456hg38UCSC Ensembl
Outerchr12:127940392..127944459hg38UCSC Ensembl
chr12:128424938..128429002hg19UCSC Ensembl
Innerchr12:128424940..128429001hg19UCSC Ensembl
Outerchr12:128424937..128429004hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg384065
hg194065
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631129
Supporting Variants
SamplesNA19395
Known GenesLINC00507
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14629440
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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