A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739853



Internal ID10323489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:2393376..2394133hg38UCSC Ensembl
OuterchrX:2311417..2312174hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38758
hg19758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6778706, essv6952402, essv6957807, essv6727597, essv6830624, essv6878950, essv6671841, essv6837905, essv6932573, essv6908072, essv6975644, essv6837904, essv6893975, essv6904177, essv6682155, essv6911799, essv6919367, essv6791019, essv6782712, essv6859242, essv6891944, essv6802922, essv6969905, essv6701583, essv6771296
SamplesSSM083, SSM046, SSM011, SSM065, SSM039, SSM013, SSM073, SSM093, SSM028, SSM029, SSM026, SSM017, SSM003, SSM031, SSM067, SSM014, SSM068, SSM081, SSM015, SSM005, SSM070, SSM025, SSM098, SSM012
Known GenesDHRSX
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)esv2739853
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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