A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739015



Internal ID9973356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:122724726..122750715hg38UCSC Ensembl
Outerchr9:125487005..125512994hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg3825990
hg1925990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6923882, essv6912169, essv6696042, essv6845629, essv6760668, essv6861869, essv6931372, essv6850516, essv6976331, essv6944436, essv6838223, essv6904519, essv6768187, essv6779039, essv6695086, essv6802510, essv6809071, essv6735310, essv6668004, essv6935562, essv6873383, essv6831897, essv6705829, essv6939902, essv6708553, essv6876349, essv6935645, essv6905752, essv6749365, essv6948621
SamplesSSM008, SSM083, SSM024, SSM075, SSM013, SSM009, SSM088, SSM002, SSM023, SSM092, SSM021, SSM018, SSM061, SSM029, SSM003, SSM067, SSM001, SSM086, SSM006, SSM085, SSM040, SSM020, SSM007, SSM015, SSM037, SSM022, SSM010, SSM091, SSM056, SSM030
Known GenesOR1L4, OR1L6
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)esv2739015
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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