A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6742134



Internal ID9804872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:12833907..12888583hg38UCSC Ensembl
Outerchr1:12893760..12948407hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3854677
hg1954648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743897, esv2743864, esv2743886, esv2743853
Supporting Variants
SamplesSSM053
Known GenesHNRNPCL1, LOC649330, PRAMEF2, PRAMEF4
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)essv6742134
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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