A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656525



Internal ID9575944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52047931..52048341hg38UCSC Ensembl
Outerchr12:52047894..52048391hg38UCSC Ensembl
Innerchr12:52441715..52442125hg19UCSC Ensembl
Outerchr12:52441678..52442175hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38498
hg19498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6041148, essv5684857
SamplesNA19313, HG00123
Known GenesNR4A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656525
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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