A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727951



Internal ID9962263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247991155..247992283hg38UCSC Ensembl
Outerchr1:248154457..248155585hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381129
hg191129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv64e201
Supporting Variantsessv6929293, essv6914166, essv6697242, essv6756702, essv6745114, essv6840169, essv6896013, essv6679395, essv6769749, essv6753689
SamplesSSM059, SSM065, SSM058, SSM084, SSM033, SSM006, SSM020, SSM016, SSM055, SSM099
Known GenesOR2L13, OR2L1P
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)esv2727951
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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