A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745381



Internal ID9979665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1121439..1121899hg38UCSC Ensembl
Outerchr12:1230605..1231065hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38461
hg19461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6970806, essv6737898, essv6673090, essv6728284, essv6809336, essv6862321, essv6783526, essv6879449
SamplesSSM007, SSM088, SSM031, SSM093, SSM046, SSM068, SSM004, 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)esv2745381
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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