A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743541



Internal ID9977825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:8668925..8669081hg38UCSC Ensembl
Outerchr1:8728984..8729140hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6961541, essv6859177, essv6668936, essv6954730, essv6847001
SamplesSSM027, SSM088, SSM026, SSM031, SSM086
Known GenesRERE
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)esv2743541
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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