A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749862



Internal ID9984146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:72093638..72095888hg38UCSC Ensembl
Outerchr15:72385979..72388229hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg382251
hg192251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6809498, essv6869531, essv6766022, essv6706584, essv6775964, essv6873992, essv6949533, essv6909293, essv6779880, essv6783994, essv6867702, essv6812531, essv6971277, essv6966479, essv6713665, essv6761281, essv6839041, essv6741564, essv6891636, essv6803796, essv6747159, essv6905308, essv6945438, essv6702879, essv6924771, essv6744323, essv6959994, essv6721100, essv6806703, essv6673857
SamplesSSM007, SSM027, SSM013, SSM053, SSM006, SSM055, SSM091, SSM061, SSM040, SSM089, SSM031, SSM039, SSM024, SSM067, SSM083, SSM097, SSM009, SSM011, SSM028, SSM073, SSM063, SSM023, SSM068, SSM044, SSM074, SSM026, SSM014, SSM008, SSM018, SSM076
Known GenesMYO9A
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)esv2749862
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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