A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630386



Internal ID7017205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92680490..92686566hg38UCSC Ensembl
Innerchr12:92680490..92686566hg38UCSC Ensembl
Outerchr12:92680469..92686583hg38UCSC Ensembl
chr12:93074266..93080342hg19UCSC Ensembl
Innerchr12:93074266..93080342hg19UCSC Ensembl
Outerchr12:93074245..93080359hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg386077
hg196077
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14570251, essv14570246, essv14570248, essv14570250, essv14570247, essv14570249
SamplesNA19066, NA18988, NA19000, NA18950, NA18984, NA18989
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630386
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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