A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740703



Internal ID10324339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:26645890..26663575hg38UCSC Ensembl
OuterchrY:28792037..28809722hg19UCSC Ensembl
CytobandYq11.23
Allele length
AssemblyAllele length
hg3817686
hg1917686
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1335e201
Supporting Variantsessv6780448, essv6763974, essv6729266, essv6937241, essv6877392, essv6756274, essv6839590, essv6877400, essv6812906, essv6921264, essv6756275, essv6921268, essv6895514, essv6843455, essv6780776, essv6756280, essv6874390, essv6888746, essv6713884, essv6696629, essv6747512, essv6713883, essv6738565, essv6824597, essv6846671, essv6756277, essv6780754, essv6885728, essv6863534, essv6744677, essv6820802, essv6901340, essv6937246, essv6917060, essv6901339, essv6937243, essv6816271, essv6871439, essv6780449, essv6763973, essv6807107
SamplesSSM100, SSM008, SSM083, SSM046, SSM079, SSM050, SSM074, SSM042, SSM088, SSM058, SSM092, SSM084, SSM090, SSM021, SSM096, SSM062, SSM017, SSM067, SSM085, SSM078, SSM016, SSM053, SSM037, SSM077, SSM076, SSM091, SSM055, SSM095, SSM098
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)esv2740703
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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