A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6972410



Internal ID10078988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:52638272..52638366hg38UCSC Ensembl
Outerchr1:53103944..53104038hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748141
Supporting Variants
SamplesSSM029
Known GenesFAM159A
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)essv6972410
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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