A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6948311



Internal ID10055827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:2844428..2844689hg38UCSC Ensembl
OuterchrX:2762469..2762730hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739889, esv2739883, esv2739888
Supporting Variants
SamplesSSM024
Known GenesGYG2
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)essv6948311
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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