A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6881134



Internal ID9929817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:143884107..144124631hg38UCSC Ensembl
Outerchr4:144805260..145045784hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38240525
hg19240525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728476, esv2728480
Supporting Variants
SamplesSSM094
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)essv6881134
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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