A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740000



Internal ID9974342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:19452139..19452364hg38UCSC Ensembl
OuterchrX:19470257..19470482hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6904188, essv6939522, essv6830638, essv6667823, essv6732321, essv6957835, essv6855942, essv6712327, essv6680868, essv6975673
SamplesSSM022, SSM007, SSM013, SSM033, SSM042, SSM029, SSM030, SSM087, SSM026, SSM081
Known GenesMAP3K15
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)esv2740000
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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