A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14514633



Internal ID2219321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64667116..64669465hg38UCSC Ensembl
Innerchr12:64667126..64669456hg38UCSC Ensembl
Outerchr12:64667107..64669475hg38UCSC Ensembl
chr12:65060896..65063245hg19UCSC Ensembl
Innerchr12:65060906..65063236hg19UCSC Ensembl
Outerchr12:65060887..65063255hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg382350
hg192350
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629777
Supporting Variants
SamplesHG01991
Known GenesRASSF3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14514633
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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