A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739699



Internal ID10323335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1402385..1402728hg38UCSC Ensembl
OuterchrX:1521278..1521621hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6919357, essv6712301, essv6923518, essv6957787, essv6964487, essv6915477, essv6727586, essv6876077, essv6891809, essv6952389, essv6682055, essv6829209, essv6911782, essv6732044, essv6778695, essv6904161, essv6975619
SamplesSSM027, SSM046, SSM013, SSM042, SSM092, SSM018, SSM029, SSM026, SSM017, SSM067, SSM007, SSM015, SSM016, SSM005, SSM010, SSM025, SSM012
Known GenesASMTL-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)esv2739699
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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