A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745383



Internal ID9979667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1121620..1121858hg38UCSC Ensembl
Outerchr12:1230786..1231024hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6737898, essv6673090, essv6728284, essv6809336, essv6862321, essv6783526, essv6879449
SamplesSSM007, SSM088, SSM031, SSM093, SSM046, SSM068, SSM075
Known GenesERC1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2745383
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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