A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6889019



Internal ID10283599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:35576784..35577151hg38UCSC Ensembl
Outerchr1:36042385..36042752hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746719
Supporting Variants
SamplesSSM097
Known GenesTFAP2E
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)essv6889019
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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