A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14403309



Internal ID2287335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20032744..20042743hg38UCSC Ensembl
Innerchr12:20032775..20042713hg38UCSC Ensembl
Outerchr12:20032714..20042774hg38UCSC Ensembl
chr12:20185678..20195677hg19UCSC Ensembl
Innerchr12:20185709..20195647hg19UCSC Ensembl
Outerchr12:20185648..20195708hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3810000
hg1910000
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628778
Supporting Variants
SamplesHG02047
Known GenesLOC100506393
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14403309
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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