A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740171



Internal ID9974513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:52857716..52858155hg38UCSC Ensembl
OuterchrX:52886745..52887184hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38440
hg19440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6802940, essv6791056, essv6923564, essv6931001, essv6957865, essv6754941, essv6870172, essv6952435, essv6873155, essv6698240, essv6740404, essv6904206, essv6760411, essv6892377, essv6775038, essv6743495, essv6919395, essv6734689, essv6782741, essv6757727, essv6944024, essv6876112, essv6855974, essv6731362, essv6829575, essv6732510, essv6927276, essv6737336, essv6751984, essv6771324, essv6680887, essv6915512, essv6674598, essv6705519, essv6749117
SamplesSSM059, SSM065, SSM087, SSM038, SSM013, SSM073, SSM050, SSM057, SSM023, SSM058, SSM092, SSM090, SSM047, SSM018, SSM061, SSM026, SSM017, SSM019, SSM001, SSM033, SSM066, SSM068, SSM040, SSM020, SSM007, SSM016, SSM053, SSM010, SSM091, SSM070, SSM025, 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)esv2740171
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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