A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6870210



Internal ID9919986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:150382902..150383193hg38UCSC Ensembl
OuterchrX:149551161..149551461hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38292
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740595
Supporting Variants
SamplesSSM090
Known GenesMAMLD1
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)essv6870210
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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