A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743705



Internal ID10324675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:132621687..132622731hg38UCSC Ensembl
Outerchr10:134435191..134436235hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg381045
hg191045
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6819450, essv6927744, essv6740880, essv6804043, essv6709822, essv6763255, essv6976766, essv6749516, essv6737731, essv6752417, essv6850848, essv6755373, essv6758077, essv6958907, essv6862129, essv6965430, essv6736787, essv6897398, essv6672818, essv6765647, essv6907174, essv6856870, essv6760802, essv6935901
SamplesSSM059, SSM027, SSM087, SSM009, SSM050, SSM088, SSM002, SSM057, SSM058, SSM021, SSM061, SSM029, SSM062, SSM026, SSM019, SSM031, SSM086, SSM006, SSM007, SSM078, SSM052, SSM056, SSM063, SSM012
Known GenesINPP5A
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)esv2743705
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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