A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629773



Internal ID6669912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64445493..64446356hg38UCSC Ensembl
Innerchr12:64445541..64446309hg38UCSC Ensembl
Outerchr12:64445446..64446404hg38UCSC Ensembl
chr12:64839273..64840136hg19UCSC Ensembl
Innerchr12:64839321..64840089hg19UCSC Ensembl
Outerchr12:64839226..64840184hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38864
hg19864
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14514579, essv14514578, essv14514581, essv14514580
SamplesHG00881, HG03937, HG02391, HG01805
Known GenesXPOT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629773
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer