A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630996



Internal ID6671129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123808169..123815279hg38UCSC Ensembl
Innerchr12:123808169..123815279hg38UCSC Ensembl
Outerchr12:123807669..123815779hg38UCSC Ensembl
chr12:124292716..124299826hg19UCSC Ensembl
Innerchr12:124292716..124299826hg19UCSC Ensembl
Outerchr12:124292216..124300326hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg387111
hg197111
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14621974
SamplesHG01912
Known GenesDNAH10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630996
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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