A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739704



Internal ID10323340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1408149..1410311hg38UCSC Ensembl
OuterchrX:1527042..1529204hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg382163
hg192163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6740370, essv6964940, essv6890607, essv6859131, essv6715984, essv6855895, essv6969900, essv6687645, essv6786910, essv6754905, essv6734661, essv6927244, essv6799380, essv6830615, essv6732066, essv6808774, essv6764897, essv6834205, essv6943972, essv6682066, essv6873134, essv6903407, essv6908060, essv6845345, essv6791008, essv6818749, essv6952390
SamplesSSM008, SSM075, SSM011, SSM087, SSM097, SSM002, SSM023, SSM058, SSM028, SSM069, SSM019, SSM035, SSM014, SSM085, SSM081, SSM072, SSM082, SSM007, SSM078, SSM005, SSM091, SSM070, SSM025, SSM004, SSM043, SSM052, SSM049
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)esv2739704
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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