A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739698



Internal ID10323334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1402157..1403328hg38UCSC Ensembl
OuterchrX:1521050..1522221hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg381172
hg191172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6964488, essv6919357, essv6935225, essv6712301, essv6923518, essv6957787, essv6964487, essv6915477, essv6727586, essv6876077, essv6891809, essv6751946, essv6762905, essv6952389, essv6771281, essv6900060, essv6764886, essv6705475, essv6682055, essv6677022, essv6811672, essv6746258, essv6829209, essv6911782, essv6732044, essv6778695, essv6743472, essv6719889, essv6757691, essv6904161, essv6799266, essv6948292, essv6969899, essv6930955, essv6749081, essv6706543, essv6754904, essv6975619
SamplesSSM100, SSM059, SSM008, SSM027, SSM024, SSM046, SSM065, SSM013, SSM009, SSM042, SSM057, SSM058, SSM028, SSM092, SSM021, SSM018, SSM029, SSM062, SSM026, SSM017, SSM032, SSM067, SSM044, SSM006, SSM040, SSM020, SSM007, SSM015, SSM016, SSM053, SSM005, SSM076, SSM010, SSM055, SSM025, SSM056, SSM012
Known GenesASMTL, ASMTL-AS1
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)esv2739698
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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