A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739891



Internal ID10323527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:2844825..2845767hg38UCSC Ensembl
OuterchrX:2762866..2763808hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38943
hg19943
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6749093, essv6690908, essv6778713, essv6705494, essv6866179, essv6767910, essv6734672, essv6930974, essv6818766, essv6760385, essv6965073, essv6799365, essv6671846, essv6859298, essv6727605, essv6743477, essv6723727, essv6855918, essv6866180, essv6775016, essv6891999, essv6829298, essv6870158, essv6903552, essv6952405, essv6762915, essv6765097, essv6919378
SamplesSSM036, SSM008, SSM045, SSM046, SSM011, SSM064, SSM087, SSM009, SSM002, SSM090, SSM061, SSM062, SSM089, SSM017, SSM031, SSM067, SSM066, SSM040, SSM020, SSM078, SSM053, SSM010, SSM025, SSM004, SSM049, SSM056, SSM012
Known GenesGYG2
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)esv2739891
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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