A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739994



Internal ID9974336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:17502284..17503012hg38UCSC Ensembl
OuterchrX:17520407..17521135hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg38729
hg19729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6849901, essv6826907, essv6957834, essv6677042, essv6671860, essv6837918, essv6964530, essv6818779, essv6751966, essv6952413, essv6811688, essv6908090, essv6900081, essv6723738, essv6855941, essv6975671, essv6866191, essv6708841
SamplesSSM100, SSM083, SSM027, SSM045, SSM087, SSM041, SSM057, SSM029, SSM026, SSM089, SSM032, SSM031, SSM014, SSM086, SSM078, SSM080, SSM076, SSM025
Known GenesNHS
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)esv2739994
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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