A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727940



Internal ID9962252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247990991..248039127hg38UCSC Ensembl
Outerchr1:248154293..248202429hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3848137
hg1948137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv63e201
Supporting Variantsessv6914167, essv6745115, essv6929293, essv6753690, essv6914166, essv6756703, essv6726066, essv6679394, essv6697242, essv6756702, essv6745114, essv6675417, essv6769750, essv6756704, essv6840169, essv6896013, essv6679395, essv6847366, essv6955099, essv6929294, essv6753691, essv6769749, essv6753689, essv6804593, essv6896014, essv6697253, essv6840170
SamplesSSM059, SSM046, SSM065, SSM074, SSM058, SSM084, SSM026, SSM032, SSM086, SSM033, SSM006, SSM020, SSM016, SSM055, SSM099
Known GenesOR2L13, OR2L1P, OR2L2, OR2L5
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)esv2727940
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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