A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740598



Internal ID9974941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:150769316..150770069hg38UCSC Ensembl
OuterchrX:149937789..149938542hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38754
hg19754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6904096, essv6757774, essv6818841, essv6850027, essv6765353, essv6771365, essv6775080
SamplesSSM059, SSM065, SSM002, SSM086, SSM066, SSM078, SSM063
Known GenesCD99L2
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)esv2740598
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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