A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726940



Internal ID9961248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:245662058..245662798hg38UCSC Ensembl
Outerchr1:245825360..245826100hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38741
hg19741
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6972720, essv6714445, essv6917642, essv6789386, essv6686330, essv6726049, essv6933518, essv6921946, essv6878542, essv6840150, essv6832770, essv6853547, essv6710773, essv6697134, essv6961872
SamplesSSM027, SSM082, SSM084, SSM042, SSM043, SSM035, SSM012, SSM017, SSM029, SSM021, SSM087, SSM038, SSM046, SSM018, SSM070
Known GenesKIF26B
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)esv2726940
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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