A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1327e201



Internal ID20126214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:148547002..148547544hg38UCSC Ensembl
chrX:147628523..147629065hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38543
hg19543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2740589, esv2743003
SamplesSSM064, SSM087, SSM013, SSM028, SSM084, SSM021, SSM026, SSM085, SSM081, SSM007, SSM077, SSM022, SSM070, SSM012
Known GenesAFF2
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)dgv1327e201
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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