A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6736653



Internal ID9799784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:143884021..144124659hg38UCSC Ensembl
Outerchr4:144805174..145045812hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38240639
hg19240639
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728476
Supporting Variants
SamplesSSM050
Known GenesGYPA, GYPB, GYPE
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)essv6736653
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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