A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743654



Internal ID9977938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:132351816..132352862hg38UCSC Ensembl
Outerchr10:134165320..134166366hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg381047
hg191047
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6709318, essv6783342, essv6779245, essv6706011, essv6958898, essv6702223, essv6681384, essv6775507, essv6850840, essv6970560, essv6866857, essv6795801, essv6952988, essv6915934, essv6834686, essv6838405, essv6677598, essv6873518, essv6897490, essv6787547, essv6668089, essv6708486, essv6691416, essv6976758, essv6863886, essv6827478, essv6791631, essv6684888, essv6876494, essv6799981, essv6927737, essv6769909, essv6845786, essv6755370, essv6969540, essv6809208, essv6749514, essv6912372, essv6815263, essv6937263, essv6919945, essv6842234, essv6712803, essv6688111, essv6791629, essv6819448, essv6887835, essv6743869, essv6862126, essv6812062, essv6879335, essv6791630, essv6948845, essv6823413
SamplesSSM036, SSM008, SSM083, SSM071, SSM024, SSM075, SSM011, SSM079, SSM039, SSM093, SSM042, SSM088, SSM041, SSM058, SSM028, SSM092, SSM084, SSM069, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM035, SSM032, SSM003, SSM067, SSM001, SSM086, SSM033, SSM066, SSM085, SSM068, SSM040, SSM072, SSM082, SSM015, SSM078, SSM016, SSM053, SSM080, SSM077, SSM076, SSM091, SSM070, SSM025, SSM034, SSM004, SSM099, SSM056, 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)esv2743654
Frequency
Sample Size96
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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