A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737846



Internal ID10321482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142203298..142203921hg38UCSC Ensembl
Outerchr8:143284659..143285282hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38624
hg19624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1230e201
Supporting Variantsessv6827144, essv6814974, essv6795456, essv6672247, essv6799636, essv6709047, essv6767165, essv6823093, essv6791274, essv6778909, essv6775214, essv6838104, essv6727804, essv6830810, essv6716228, essv6684623, essv6731570, essv6944291, essv6712518, essv6701857, essv6939775, essv6841923, essv6850316, essv6912042, essv6723960, essv6931241, essv6958292, essv6923742
SamplesSSM008, SSM083, SSM071, SSM045, SSM046, SSM079, SSM039, SSM042, SSM041, SSM023, SSM084, SSM047, SSM018, SSM026, SSM031, SSM067, SSM086, SSM066, SSM081, SSM072, SSM020, SSM015, SSM080, SSM077, SSM022, SSM070, SSM034, SSM043
Known GenesLINC00051
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)esv2737846
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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