A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740470



Internal ID10324106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:130405805..130406156hg38UCSC Ensembl
OuterchrX:129539779..129540130hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6829865, essv6850001, essv6708892, essv6723792, essv6682576, essv6767951, essv6667861, essv6684451, essv6775068, essv6939571, essv6782774, essv6826946, essv6873173, essv6671927
SamplesSSM045, SSM064, SSM041, SSM031, SSM086, SSM066, SSM068, SSM005, SSM080, SSM022, SSM010, SSM091, SSM034, SSM030
Known GenesRBMX2
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)esv2740470
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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