A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727984



Internal ID9962296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248044489..248044827hg38UCSC Ensembl
Outerchr1:248207791..248208129hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847367, essv6825212, essv6942031, essv6669305, essv6821398, essv6675418, essv6813355, essv6679396, essv6886154, essv6892522, essv6726067, essv6955100, essv6704047
SamplesSSM046, SSM079, SSM023, SSM096, SSM026, SSM032, SSM031, SSM086, SSM033, SSM040, SSM080, SSM077, SSM098
Known GenesOR2L13
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)esv2727984
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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