A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739449



Internal ID10323085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137450016..137450771hg38UCSC Ensembl
Outerchr9:140344468..140345223hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38756
hg19756
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6976411, essv6802776, essv6677439, essv6919756, essv6834555, essv6727961, essv6832099, essv6684759, essv6958594, essv6965143, essv6908477, essv6811936, essv6752286, essv6915808, essv6923914, essv6795637, essv6668022, essv6845653, essv6856596, essv6672523, essv6939933, essv6684798
SamplesSSM071, SSM027, SSM046, SSM087, SSM009, SSM057, SSM018, SSM029, SSM026, SSM017, SSM032, SSM031, SSM014, SSM085, SSM082, SSM016, SSM005, SSM076, SSM022, SSM010, SSM034, SSM030
Known GenesMIR7114, NSMF
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)esv2739449
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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