A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731339



Internal ID9965656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:3406593..3407333hg38UCSC Ensembl
Outerchr10:3448785..3449525hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38741
hg19741
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6768222, essv6876389, essv6783171, essv6779104, essv6915824, essv6771719, essv6952852, essv6691296, essv6705888, essv6944510, essv6695152, essv6672561, essv6842096, essv6815144, essv6939956, essv6958644, essv6906074, essv6827334, essv6935729, essv6965183, essv6743758, essv6970399, essv6787384, essv6716413, essv6912236, essv6866679, essv6873416, essv6681250, essv6832254, essv6948693, essv6931443, essv6894344, essv6677463, essv6740750, essv6712692, essv6897370, essv6830969, essv6709203, essv6799848, essv6936018, essv6823283, essv6727979, essv6838290, essv6919781, essv6749406, essv6735621, essv6806108, essv6775379, essv6795660, essv6904576, essv6731754, essv6755251, essv6879233, essv6923943, essv6895887
SamplesSSM036, SSM083, SSM071, SSM027, SSM024, SSM046, SSM064, SSM079, SSM065, SSM013, SSM093, SSM074, SSM042, SSM002, SSM041, SSM023, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM069, SSM026, SSM089, SSM017, SSM032, SSM003, SSM031, SSM067, SSM033, SSM066, SSM068, SSM081, SSM040, SSM072, SSM020, SSM007, SSM015, SSM016, SSM053, SSM080, SSM037, SSM077, SSM022, SSM010, SSM091, SSM025, SSM099, SSM043, SSM052, SSM098, SSM056, SSM012
Known Genes
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)esv2731339
Frequency
Sample Size96
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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