A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739760



Internal ID10323396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1636943..1641881hg38UCSC Ensembl
OuterchrX:1755836..1760774hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg384939
hg194939
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1307e201
Supporting Variantsessv6837894, essv6837892, essv6930960, essv6915483, essv6694708, essv6771284, essv6684398, essv6861425, essv6694711, essv6845347, essv6964973, essv6712307, essv6764942, essv6701572, essv6690895, essv6765292, essv6677026, essv6837893, essv6799310, essv6705480, essv6870149, essv6890611, essv6740373, essv6952394, essv6705479
SamplesSSM036, SSM008, SSM083, SSM065, SSM097, SSM039, SSM009, SSM042, SSM088, SSM090, SSM032, SSM085, SSM040, SSM020, SSM016, SSM037, SSM025, SSM034, SSM004, SSM052, 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)esv2739760
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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