A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740632



Internal ID9974975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:153541644..153542319hg38UCSC Ensembl
OuterchrX:152807102..152807777hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38676
hg19676
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6671953, essv6939593, essv6841768, essv6694774, essv6892843, essv6775083, essv6680929, essv6771370
SamplesSSM065, SSM022, SSM033, SSM084, SSM031, SSM012, SSM066, SSM037
Known GenesATP2B3
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)esv2740632
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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