A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14623632



Internal ID4625468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124529054..124531531hg38UCSC Ensembl
Innerchr12:124529054..124531531hg38UCSC Ensembl
Outerchr12:124528926..124531675hg38UCSC Ensembl
chr12:125013600..125016077hg19UCSC Ensembl
Innerchr12:125013600..125016077hg19UCSC Ensembl
Outerchr12:125013472..125016221hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382478
hg192478
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631016
Supporting Variants
SamplesHG01072
Known GenesNCOR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14623632
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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