A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717624



Internal ID9951915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79172227..79172553hg38UCSC Ensembl
Outerchr18:76932227..76932553hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6885640, essv6888670, essv6846580, essv6832129, essv6804115, essv6741772, essv6665400, essv6769155, essv6891967, essv6696482, essv6949997, essv6945946, essv6840586, essv6852556, essv6812824, essv6772952, essv6674541, essv6954169, essv6967197, essv6835697, essv6725351, essv6784471, essv6685774, essv6776513, essv6788656, essv6928656, essv6839472, essv6858514, essv6905703, essv6863396, essv6692932, essv6960733, essv6916931, essv6758778, essv6753180, essv6880097, essv6744600, essv6756193, essv6678686, essv6901256, essv6713772
SamplesSSM100, SSM059, SSM083, SSM027, SSM024, SSM045, SSM064, SSM065, SSM087, SSM097, SSM013, SSM073, SSM093, SSM042, SSM088, SSM057, SSM023, SSM058, SSM069, SSM096, SSM026, SSM019, SSM032, SSM031, SSM086, SSM066, SSM085, SSM068, SSM081, SSM082, SSM016, SSM053, SSM005, SSM037, SSM076, SSM010, SSM095, SSM025, SSM034, SSM004, SSM052
Known GenesATP9B
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)esv2717624
Frequency
Sample Size96
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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