A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739743



Internal ID10323379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1603491..1604040hg38UCSC Ensembl
OuterchrX:1722384..1722933hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38550
hg19550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6975626, essv6964962, essv6767897, essv6829253, essv6765291, essv6760379, essv6799288, essv6943977, essv6964493, essv6845346, essv6830617, essv6732099, essv6849859, essv6667803, essv6682099, essv6939499, essv6775002, essv6706565, essv6757693, essv6734662, essv6743474, essv6694707, essv6952392, essv6746261, essv6904164, essv6749083, essv6873135, essv6764931, essv6919359, essv6855902, essv6690894, essv6957792, essv6771283, essv6837891, essv6930959, essv6762907, essv6915482, essv6737313, essv6818753, essv6911786, essv6731324
SamplesSSM059, SSM036, SSM008, SSM083, SSM027, SSM064, SSM065, SSM087, SSM013, SSM009, SSM050, SSM023, SSM047, SSM061, SSM029, SSM062, SSM026, SSM017, SSM086, SSM066, SSM006, SSM085, SSM081, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM037, SSM022, SSM010, SSM091, SSM055, SSM025, SSM004, SSM049, SSM056, SSM030, SSM063
Known GenesASMT
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)esv2739743
Frequency
Sample Size96
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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