A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739758



Internal ID10323394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1636868..1641881hg38UCSC Ensembl
OuterchrX:1755761..1760774hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg385014
hg195014
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1307e201
Supporting Variantsessv6837892, essv6859165, essv6708824, essv6904165, essv6930960, essv6915483, essv6694708, essv6771284, essv6861425, essv6749084, essv6694711, essv6845347, essv6964973, essv6764942, essv6701572, essv6765292, essv6799310, essv6705480, essv6870149, essv6890611, essv6740373, essv6727591, essv6671825, essv6705479
SamplesSSM008, SSM083, SSM046, SSM011, SSM065, SSM097, SSM039, SSM013, SSM009, SSM088, SSM041, SSM090, SSM031, SSM085, SSM040, SSM020, SSM016, SSM037, SSM004, SSM052, SSM056, SSM063
Known GenesASMT
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)esv2739758
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer