A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629777



Internal ID7016598
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14514633, essv14514634
SamplesNA20506, HG01991
Known GenesRASSF3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629777
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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