A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740129



Internal ID9974471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:45042506..45042934hg38UCSC Ensembl
OuterchrX:44901751..44902179hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38429
hg19429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6969935
SamplesSSM028
Known GenesKDM6A
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)esv2740129
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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