A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739169



Internal ID9973510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133548982..133549310hg38UCSC Ensembl
Outerchr9:136414104..136414432hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6890927, essv6958541, essv6908464, essv6695102, essv6856560, essv6927574, essv6819206, essv6965107, essv6709172, essv6702019, essv6731706, essv6795612, essv6687971, essv6861884, essv6783109, essv6746533, essv6838237, essv6866623, essv6672491
SamplesSSM083, SSM071, SSM027, SSM087, SSM097, SSM039, SSM088, SSM041, SSM047, SSM026, SSM089, SSM019, SSM035, SSM031, SSM014, SSM068, SSM078, SSM037, SSM055
Known GenesADAMTSL2
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)esv2739169
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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