A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739931



Internal ID10323567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:5652263..5652664hg38UCSC Ensembl
OuterchrX:5570304..5570705hg19UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6795169, essv6698226, essv6897107, essv6727606, essv6805819, essv6908082, essv6878958, essv6671851, essv6687660, essv6975659, essv6939516, essv6861447, essv6684420, essv6694725, essv6830635, essv6811683, essv6964519, essv6890628, essv6892044, essv6893982, essv6719911, essv6786933, essv6837912, essv6884578, essv6870162, essv6782723, essv6881779, essv6957822, essv6834225, essv6849888, essv6814758, essv6930981, essv6799402, essv6948314, essv6690912, essv6682177, essv6826901, essv6701593, essv6778715, essv6859331, essv6855927, essv6808791
SamplesSSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM046, SSM011, SSM087, SSM038, SSM097, SSM039, SSM093, SSM074, SSM088, SSM090, SSM069, SSM029, SSM026, SSM035, SSM094, SSM031, SSM067, SSM044, SSM014, SSM086, SSM068, SSM081, SSM072, SSM082, SSM020, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM095, SSM034, SSM099, SSM098, 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)esv2739931
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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