A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14514622



Internal ID6165979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64623695..64624716hg38UCSC Ensembl
Innerchr12:64623696..64624715hg38UCSC Ensembl
Outerchr12:64623694..64624717hg38UCSC Ensembl
chr12:65017475..65018496hg19UCSC Ensembl
Innerchr12:65017476..65018495hg19UCSC Ensembl
Outerchr12:65017474..65018497hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg381022
hg191022
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629775
Supporting Variants
SamplesNA19704
Known GenesRASSF3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14514622
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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