A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739034



Internal ID10322670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:124341293..124341673hg38UCSC Ensembl
Outerchr9:127103572..127103952hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6958516, essv6705833, essv6672473, essv6944440, essv6850519, essv6923886, essv6935648, essv6709160, essv6931376, essv6952779, essv6775316
SamplesSSM041, SSM023, SSM021, SSM018, SSM026, SSM031, SSM086, SSM066, SSM040, SSM020, SSM025
Known GenesNEK6
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)esv2739034
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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