A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6750698



Internal ID9814877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155648431..155763434hg38UCSC Ensembl
Outerchr1:155618222..155733225hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38115004
hg19115004
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718429
Supporting Variants
SamplesSSM057
Known GenesDAP3, GON4L, MSTO2P, YY1AP1
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)essv6750698
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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