A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6826942



Internal ID9881044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:120463731..120463949hg38UCSC Ensembl
OuterchrX:119597586..119597804hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740433
Supporting Variants
SamplesSSM080
Known GenesLAMP2
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)essv6826942
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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