A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727929



Internal ID9962241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247949191..248061541hg38UCSC Ensembl
Outerchr1:248112493..248224843hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38112351
hg19112351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6667022, essv6933536, essv6697265, essv6756704, essv6847366, essv6886154, essv6756702, essv6753691, essv6896014, essv6914166, essv6840170, essv6726067, essv6847367, essv6669305, essv6955099, essv6955100, essv6769750, essv6736152, essv6745115, essv6753690, essv6972744, essv6704047, essv6745114, essv6892522, essv6896013, essv6675418, essv6719708, essv6753689, essv6825212, essv6679396, essv6840169, essv6942031, essv6697242, essv6726066, essv6697253, essv6821398, essv6742321, essv6769749, essv6679395, essv6750777, essv6756703, essv6815153, essv6914167, essv6679394, essv6804593, essv6813355, essv6764328, essv6929294, essv6675417, essv6929293
SamplesSSM065, SSM053, SSM086, SSM006, SSM055, SSM033, SSM084, SSM099, SSM040, SSM031, SSM020, SSM016, SSM057, SSM001, SSM032, SSM050, SSM077, SSM029, SSM030, SSM021, SSM002, SSM063, SSM046, SSM096, SSM023, SSM079, SSM074, SSM026, SSM098, SSM058, SSM059, SSM080
Known GenesOR2AK2, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8
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)esv2727929
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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