A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740275



Internal ID10323911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:85254313..85254767hg38UCSC Ensembl
OuterchrX:84509319..84509773hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38455
hg19455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6957897, essv6719945, essv6884600, essv6737348, essv6923569, essv6767941, essv6684438, essv6969948, essv6716047, essv6944043
SamplesSSM064, SSM050, SSM023, SSM028, SSM018, SSM026, SSM044, SSM095, SSM034, SSM043
Known GenesZNF711
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)esv2740275
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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