A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6841743



Internal ID10241051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:82726800..82732645hg38UCSC Ensembl
OuterchrX:81982249..81988094hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg385846
hg195846
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740261
Supporting Variants
SamplesSSM084
Known Genes
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)essv6841743
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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