A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749679



Internal ID9983963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:50340571..50341194hg38UCSC Ensembl
Outerchr15:50632768..50633391hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38624
hg19624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6803783, essv6741423, essv6897939, essv6953666, essv6744306, essv6699029, essv6713347, essv6940754, essv6665294, essv6959955, essv6768807, essv6924746, essv6702850, essv6932290, essv6936583, essv6920637, essv6752851, essv6974618, essv6876983, essv6800634, essv6909269
SamplesSSM064, SSM038, SSM039, SSM073, SSM042, SSM057, SSM092, SSM021, SSM018, SSM029, SSM026, SSM017, SSM014, SSM072, SSM020, SSM053, SSM022, SSM025, SSM004, SSM099, SSM052
Known GenesGABPB1
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)esv2749679
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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