A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740172



Internal ID10323808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:52857863..52858090hg38UCSC Ensembl
OuterchrX:52886892..52887119hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6802940, essv6791056, essv6923564, essv6957865, essv6870172, essv6952435, essv6873155, essv6698240, essv6740404, essv6904206, essv6760411, essv6892377, essv6919395, essv6782741, essv6944024, essv6876112, essv6855974, essv6731362, essv6829575, essv6732510, essv6927276, essv6751984, essv6771324, essv6680887, essv6705519
SamplesSSM065, SSM087, SSM038, SSM013, SSM073, SSM057, SSM023, SSM092, SSM090, SSM047, SSM018, SSM061, SSM026, SSM017, SSM019, SSM033, SSM068, SSM040, SSM007, SSM010, SSM091, SSM070, SSM025, SSM052, 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)esv2740172
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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