A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730184



Internal ID9964500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1559887..1560809hg38UCSC Ensembl
Outerchr10:1602082..1603004hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38923
hg19923
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6735554, essv6779094, essv6832210, essv6734940, essv6760696, essv6948678, essv6740744, essv6958627, essv6935716, essv6968340, essv6809097, essv6698486, essv6912227, essv6768553, essv6919771, essv6952836, essv6895798, essv6749400, essv6876383, essv6737622, essv6884841, essv6915816, essv6757967, essv6775367, essv6708821, essv6672546, essv6743753, essv6724140, essv6765547, essv6850585, essv6819236, essv6752295, essv6976433, essv6698499, essv6927610, essv6944499, essv6712678, essv6802876, essv6931434
SamplesSSM010, SSM007, SSM092, SSM053, SSM086, SSM006, SSM061, SSM042, SSM078, SSM031, SSM025, SSM020, SSM016, SSM057, SSM001, SSM024, SSM045, SSM067, SSM050, SSM012, SSM056, SSM017, SSM009, SSM066, SSM029, SSM095, SSM021, SSM063, SSM038, SSM019, SSM023, SSM052, SSM004, SSM075, SSM015, SSM026, SSM049, SSM008, SSM059
Known GenesADARB2
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)esv2730184
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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