A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14359306



Internal ID4361122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8845607..8850343hg38UCSC Ensembl
Innerchr12:8845610..8850340hg38UCSC Ensembl
Outerchr12:8845604..8850346hg38UCSC Ensembl
chr12:8998203..9002939hg19UCSC Ensembl
Innerchr12:8998206..9002936hg19UCSC Ensembl
Outerchr12:8998200..9002942hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg384737
hg194737
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628482
Supporting Variants
SamplesHG02374
Known GenesA2ML1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14359306
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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