A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740708



Internal ID10324344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:56728236..56771064hg38UCSC Ensembl
OuterchrY:58819807..58862635hg19UCSC Ensembl
CytobandYq12
Allele length
AssemblyAllele length
hg3842829
hg1942829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6729270, essv6901349, essv6937247, essv6824603, essv6816272, essv6810101, essv6921273, essv6871440, essv6885730, essv6812907, essv6696633, essv6780451, essv6685873, essv6674716, essv6892058, essv6895516, essv6678812, essv6780450, essv6668683, essv6835812, essv6950123, essv6967370, essv6801253, essv6839596, essv6883023, essv6925297, essv6863535, essv6696631, essv6843460, essv6832236, essv6921272, essv6868343, essv6880181, essv6888747, essv6898329, essv6917062, essv6828672, essv6713885, essv6947118
SamplesSSM100, SSM083, SSM027, SSM024, SSM075, SSM046, SSM079, SSM097, SSM093, SSM042, SSM088, SSM084, SSM090, SSM021, SSM018, SSM096, SSM089, SSM017, SSM094, SSM032, SSM003, SSM031, SSM067, SSM081, SSM072, SSM082, SSM016, SSM080, SSM037, SSM077, SSM076, SSM095, SSM034, SSM099, SSM098, SSM030
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)esv2740708
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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