A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739898



Internal ID10323534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:3164959..3165747hg38UCSC Ensembl
OuterchrX:3083000..3083788hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38789
hg19789
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6957814, essv6969910, essv6904179, essv6876090, essv6923542, essv6698223, essv6782718, essv6855919, essv6751953, essv6927257, essv6732210, essv6760386, essv6734673, essv6965084, essv6911805, essv6743478, essv6740379, essv6948312, essv6749094, essv6767911, essv6771303, essv6737322, essv6754916, essv6829309, essv6723728, essv6903563, essv6892010, essv6939514, essv6897102, essv6975654
SamplesSSM024, SSM045, SSM064, SSM065, SSM087, SSM038, SSM013, SSM050, SSM002, SSM057, SSM058, SSM028, SSM092, SSM018, SSM061, SSM029, SSM026, SSM019, SSM068, SSM007, SSM015, SSM053, SSM022, SSM010, SSM004, SSM099, SSM052, SSM049, SSM056, SSM012
Known Genes
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)esv2739898
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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