A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743657



Internal ID10324627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:132352050..132352605hg38UCSC Ensembl
Outerchr10:134165554..134166109hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38556
hg19556
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6709318, essv6783342, essv6779245, essv6702223, essv6681384, essv6970560, essv6866857, essv6795801, essv6952988, essv6915934, essv6834686, essv6838405, essv6677598, essv6787547, essv6668089, essv6691416, essv6827478, essv6791631, essv6684888, essv6876494, essv6799981, essv6927737, essv6815263, essv6919945, essv6842234, essv6712803, essv6791629, essv6819448, essv6862126, essv6812062, essv6879335, essv6791630, essv6823413
SamplesSSM036, SSM083, SSM071, SSM079, SSM039, SSM093, SSM042, SSM088, SSM041, SSM028, SSM092, SSM084, SSM069, SSM089, SSM017, SSM019, SSM032, SSM067, SSM033, SSM068, SSM072, SSM082, SSM078, SSM016, SSM080, SSM077, SSM076, SSM070, SSM025, SSM034, SSM030
Known GenesLRRC27
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)esv2743657
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer