A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739363



Internal ID3289859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:136532849..136534022hg38UCSC Ensembl
Outerchr9:139427301..139428474hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381174
hg191174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6879222, essv6866645, essv6965134, essv6861907, essv6811934, essv6672517, essv6823248, essv6827302, essv6687983, essv6976402, essv6900347, essv6904550, essv6749393, essv6862642, essv6870455, essv6850558, essv6890942, essv6709188, essv6684757, essv6908475, essv6819224, essv6958580, essv6856588
SamplesSSM027, SSM013, SSM086, SSM078, SSM088, SSM089, SSM090, SSM031, SSM035, SSM097, SSM041, SSM093, SSM100, SSM056, SSM011, SSM029, SSM034, SSM087, SSM079, SSM026, SSM014, SSM076, SSM080
Known GenesNOTCH1
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)esv2739363
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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