A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740080



Internal ID10323716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:34155269..34477360hg38UCSC Ensembl
OuterchrX:34173386..34495477hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38322092
hg19322092
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6834236, essv6930994, essv6677047, essv6866200, essv6829487, essv6965273, essv6908100, essv6957852, essv6944013, essv6732410, essv6904198, essv6805828, essv6903674, essv6765308, essv6716023, essv6708850, essv6760401, essv6845378, essv6687671, essv6881787, essv6705511, essv6861457, essv6908099, essv6849916, essv6841727, essv6849917
SamplesSSM013, SSM074, SSM088, SSM002, SSM041, SSM023, SSM084, SSM061, SSM026, SSM089, SSM035, SSM094, SSM032, SSM014, SSM086, SSM085, SSM040, SSM082, SSM020, SSM007, SSM010, SSM004, SSM043, SSM063
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)esv2740080
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer