A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738434



Internal ID9972774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:37917944..37918684hg38UCSC Ensembl
Outerchr9:37917941..37918681hg19UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg38741
hg19741
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6841974, essv6976219, essv6884765, essv6684166, essv6850406, essv6856424, essv6734743, essv6958391, essv6775259, essv6970239
SamplesSSM087, SSM028, SSM084, SSM029, SSM026, SSM086, SSM066, SSM007, SSM005, SSM095
Known GenesSHB
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)esv2738434
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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